ClinVar Miner

List of variants in gene HCN1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys) rs1031913850 0.00010
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg) rs1245405853 0.00002
NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln) rs769934821 0.00001
NM_021072.4(HCN1):c.1936A>T (p.Thr646Ser) rs1175835174 0.00001
NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser) rs2112040690
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln) rs1351333514
NM_021072.4(HCN1):c.1369C>G (p.Leu457Val)
NM_021072.4(HCN1):c.1377+1G>A rs1554020031
NM_021072.4(HCN1):c.1449T>A (p.Phe483Leu)
NM_021072.4(HCN1):c.1552G>T (p.Gly518Cys)
NM_021072.4(HCN1):c.157C>T (p.His53Tyr)
NM_021072.4(HCN1):c.1628T>G (p.Leu543Arg)
NM_021072.4(HCN1):c.1678C>G (p.Arg560Gly) rs1744875571
NM_021072.4(HCN1):c.1696G>A (p.Val566Met) rs766943052
NM_021072.4(HCN1):c.177C>A (p.Phe59Leu)
NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys)
NM_021072.4(HCN1):c.199G>C (p.Gly67Arg) rs1427664939
NM_021072.4(HCN1):c.208G>C (p.Gly70Arg)
NM_021072.4(HCN1):c.2258C>T (p.Pro753Leu)
NM_021072.4(HCN1):c.2288C>G (p.Pro763Arg) rs1437053801
NM_021072.4(HCN1):c.2303A>C (p.His768Pro) rs1561079128
NM_021072.4(HCN1):c.232G>A (p.Ala78Thr)
NM_021072.4(HCN1):c.2488G>T (p.Gly830Trp)
NM_021072.4(HCN1):c.2566G>A (p.Val856Ile)
NM_021072.4(HCN1):c.2632G>C (p.Asp878His)
NM_021072.4(HCN1):c.2634C>A (p.Asp878Glu)
NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr) rs761866949
NM_021072.4(HCN1):c.313G>A (p.Gly105Arg)
NM_021072.4(HCN1):c.319A>G (p.Asn107Asp) rs2112108878
NM_021072.4(HCN1):c.416G>A (p.Ser139Asn)
NM_021072.4(HCN1):c.451A>G (p.Ile151Val) rs890733454
NM_021072.4(HCN1):c.643A>G (p.Met215Val) rs975527828
NM_021072.4(HCN1):c.685T>A (p.Ser229Thr) rs1561230513
NM_021072.4(HCN1):c.734C>T (p.Ser245Phe) rs1561230479
NM_021072.4(HCN1):c.767T>C (p.Ile256Thr)
NM_021072.4(HCN1):c.781A>G (p.Lys261Glu) rs1554037378
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) rs541911994
NM_021072.4(HCN1):c.874G>A (p.Ala292Thr) rs1741171183
NM_021072.4(HCN1):c.990G>A (p.Trp330Ter)

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