ClinVar Miner

List of variants in gene HCN1 reported as pathogenic by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.1240G>A (p.Val414Met) rs1561120793
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln) rs1561081319
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_021072.4(HCN1):c.469C>G (p.Leu157Val) rs1561230606
NM_021072.4(HCN1):c.728T>G (p.Met243Arg) rs1561230486
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) rs587777493
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) rs587777494
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) rs1057521989
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) rs1318391259

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