ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Invitae

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Total variants: 29
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HGVS dbSNP
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1129-832_3108dup
NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.3(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.3(KCNH2):c.1691T>A (p.Leu564Gln)
NM_000238.3(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.3(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.3(KCNH2):c.1755G>C (p.Trp585Cys)
NM_000238.3(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.3(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
NM_000238.3(KCNH2):c.2146-3_2146-1delCAGinsAA rs1554425320
NM_000238.3(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.3(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2694_2699dup (p.Asp898_Thr899dup) rs1399804251
NM_000238.3(KCNH2):c.308-2A>G rs1057520598
NM_000238.3(KCNH2):c.76_76+1delAG rs1563193513
NM_000238.3(KCNH2):c.910_916+11delAGCACCGGTGAGGGCGCC rs1563169296
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391

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