List of variants in gene KCNH2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.308-2278C>T	rs41313095	0.00690
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)	rs143011005	0.00097
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)	rs75648145	0.00085
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)	rs199473505	0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	rs138776684	0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	rs77331749	0.00056
NM_000238.4(KCNH2):c.1128+1865C>T	rs200324802	0.00038
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)	rs72549418	0.00029
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)	rs189457419	0.00017
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)	rs376180501	0.00012
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=)	rs776097223	0.00010
NM_000238.4(KCNH2):c.2398+179G>A	rs373927190	0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=)	rs41312087	0.00009
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)	rs201627778	0.00006
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)	rs141117135	0.00006
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=)	rs373414022	0.00006
NM_000238.4(KCNH2):c.342C>T (p.Pro114=)	rs532959204	0.00006
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)	rs778879572	0.00005
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=)	rs147635827	0.00004
NM_000238.4(KCNH2):c.783G>A (p.Ser261=)	rs769470521	0.00004
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=)	rs41307295	0.00003
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)	rs781274793	0.00003
NM_000238.4(KCNH2):c.3459C>T (p.His1153=)	rs755599756	0.00003
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=)	rs372089646	0.00002
NM_000238.4(KCNH2):c.2965+7C>T	rs754828103	0.00002
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=)	rs759887868	0.00002
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=)	rs576125279	0.00001
NM_000238.4(KCNH2):c.2109C>T (p.His703=)	rs202214833	0.00001
NM_000238.4(KCNH2):c.2292G>A (p.Pro764=)	rs766291953	0.00001
NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)	rs746102465	0.00001
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)	rs754883792	0.00001
NM_000238.4(KCNH2):c.579C>T (p.Ala193=)	rs778362419	0.00001
NM_000238.4(KCNH2):c.930A>G (p.Pro310=)	rs745496986	0.00001
NM_000238.4(KCNH2):c.1251G>A (p.Leu417=)	rs1345291709
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)	rs144926928
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=)	rs147126965
NM_000238.4(KCNH2):c.2097G>A (p.Glu699=)	rs550680502
NM_000238.4(KCNH2):c.2169C>T (p.Cys723=)	rs2116950851
NM_000238.4(KCNH2):c.2508C>T (p.Asp836=)	rs139295242
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)	rs143512106
NM_000238.4(KCNH2):c.2697G>A (p.Thr899=)	rs1171773594
NM_000238.4(KCNH2):c.2721C>T (p.Ala907=)	rs1800974519
NM_000238.4(KCNH2):c.2763C>A (p.Gly921=)	rs2116933675
NM_000238.4(KCNH2):c.300G>T (p.Arg100=)	rs761176105
NM_000238.4(KCNH2):c.3093T>G (p.Gly1031=)
NM_000238.4(KCNH2):c.3198G>T (p.Leu1066=)
NM_000238.4(KCNH2):c.42C>T (p.Phe14=)
NM_000238.4(KCNH2):c.473-5del	rs1584866473

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