ClinVar Miner

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

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.308-2278C>T rs41313095 0.00690
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 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.3228C>T (p.Pro1076=) rs41312087 0.00009
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.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.1251G>A (p.Leu417=) rs1345291709
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.2169C>T (p.Cys723=) rs2116950851
NM_000238.4(KCNH2):c.2763C>A (p.Gly921=) rs2116933675
NM_000238.4(KCNH2):c.42C>T (p.Phe14=)
NM_000238.4(KCNH2):c.473-5del rs1584866473
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698

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