ClinVar Miner

List of variants in gene HCN1 studied for generalized epilepsy

Included ClinVar conditions (69):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) rs2112040738
NM_021072.4(HCN1):c.1169T>C (p.Val390Ala) rs2112040676
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly) rs2112040633
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln) rs1351333514
NM_021072.4(HCN1):c.1240G>A (p.Val414Met) rs1561120793
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) rs1265198753
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) rs1746946512
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr) rs1353247808
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)
NM_021072.4(HCN1):c.1522G>A (p.Val508Met) rs180790607
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1718T>G (p.Leu573Arg)
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln) rs1561081319
NM_021072.4(HCN1):c.1917C>G (p.Ile639Met)
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) rs767602409
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) rs1561079301
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs) rs2111839421
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)
NM_021072.4(HCN1):c.225_245dup (p.Glu82_Asp83insGluProAlaGlyGlyPheGlu)
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.469C>G (p.Leu157Val) rs1561230606
NM_021072.4(HCN1):c.499T>C (p.Phe167Leu)
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser) rs2112032137
NM_021072.4(HCN1):c.701A>G (p.Tyr234Cys)
NM_021072.4(HCN1):c.719A>G (p.Glu240Gly) rs2112031908
NM_021072.4(HCN1):c.728T>G (p.Met243Arg) rs1561230486
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys) rs1745528455
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) rs541911994
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) rs1318391259

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