Published variants which appear within exome sequencing databases at expectedly low frequencies.

Table 2: Published variants which appear within exome sequencing databases at expectedly low frequencies.

Disease	Gene	Variant	MAF	PolyPhen	Reference
MEN1	MENIN	R171W	0.0308	Possibly damaging	[16]
MEN2	RET	C630F	0	Benign	[10,17]
	RET	C618S	0	Possibly damaging	[10,18]
	RET	C618G	0	Probably damaging	[18]
	RET	C620Y	0	Probably damaging	[18]
	RET	C634F	0	Probably damaging	[10,18]
	RET	C634S	0	Probably damaging	[18]
	RET	M918V	0	Probably damaging	[10,19]
	RET	C634R	0	Probably damaging	[20,21]
MEN2a	RET	532dup	0.0077	Benign	[20]
	RET	G321R	0.0077	Benign	[20,22]
	RET	R600Q	0	Benign	[20]
	RET	D631Y	0.0077	Benign	[10,20]
	RET	K603E	0	Benign	[20]
	RET	V778I	0	Benign	[10,23]
	RET	R833C	0	Benign	[24]
	RET	N777S	0	Benign	[25]
	RET	C634A	0	Not available	[20]
	RET	G819K	0.0077	Not available	[20]
	RET	Y791F	0.123	Possibly damaging	[20,26]
	RET	C611x^*	0	Probably damaging	[18,27]
	RET	C609x^**	0	Probably damaging	[27]
	RET	E768D	0	Probably damaging	[27]
	RET	K666E	0.0077	Probably damaging	[16]
	RET	C515S	0	Probably damaging	[28]
	RET	S649L	0.0538	Probably damaging	[29]
	RET	G533C	0	Probably damaging	[30]
	RET	L790F	0	Probably damaging	[26]
	RET	R844Q	0	Probably damaging	[20]
	RET	S891A	0.0154	Probably damaging	[20]
	RET	V804L	0	Probably damaging	[20,27]
	RET	V804M	0.0078	Probably damaging	[27,31]
	RET	R912P	0.0154	Probably damaging	[20]
	RET	C634W	0	Probably damaging	[20,32]
	RET	C634Y	0	Probably damaging	[32]
MEN2b	RET	A883x	0	Probably damaging	[33]
	RET	A883F	0	Probably damaging	[33]
	RET	E805K	0	Probably damaging	[24]
	RET	M918T	0	Probably damaging	[27,34]

^*C611R/G/F/S/W/Y, ^**C609F/R/G/S/Y.