ClinVar Miner

List of variants in gene HCN1 studied for Inborn genetic diseases

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_021072.4(HCN1):c.1783+4C>T rs188586020 0.00196
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_021072.4(HCN1):c.1710C>T (p.Asn570=) rs141455774 0.00038
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) rs56164833 0.00035
NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala) rs560701504 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_021072.4(HCN1):c.1626C>T (p.Cys542=) rs150863293 0.00023
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) rs370113959 0.00021
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808 0.00019
NM_021072.4(HCN1):c.24C>T (p.Asn8=) rs753690439 0.00015
NM_021072.4(HCN1):c.181G>C (p.Val61Leu) rs900254081 0.00014
NM_021072.4(HCN1):c.1521C>T (p.Ala507=) rs55642950 0.00013
NM_021072.4(HCN1):c.1041C>T (p.Tyr347=) rs140235085 0.00011
NM_021072.4(HCN1):c.1437G>A (p.Ala479=) rs372374391 0.00011
NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala) rs758226055 0.00011
NM_021072.4(HCN1):c.2445C>A (p.Ile815=) rs375360013 0.00011
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys) rs1031913850 0.00010
NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys) rs372807250 0.00007
NM_021072.4(HCN1):c.2382C>T (p.Pro794=) rs754764304 0.00006
NM_021072.4(HCN1):c.1143C>T (p.Val381=) rs761760627 0.00003
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_021072.4(HCN1):c.261C>G (p.Pro87=) rs199612501 0.00003
NM_021072.4(HCN1):c.369G>A (p.Glu123=) rs956231769 0.00003
NM_021072.4(HCN1):c.726A>C (p.Gly242=) rs199622227 0.00003
NM_021072.4(HCN1):c.1497A>G (p.Gly499=) rs142913986 0.00002
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg) rs1245405853 0.00002
NM_021072.4(HCN1):c.2560C>A (p.Arg854=) rs534013981 0.00002
NM_021072.4(HCN1):c.1378-4T>C rs767538006 0.00001
NM_021072.4(HCN1):c.1578C>A (p.Ser526=) rs1478297290 0.00001
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.2231C>T (p.Pro744Leu) rs1252725512 0.00001
NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser) rs780209007 0.00001
NM_021072.4(HCN1):c.270G>A (p.Gln90=) rs886043090 0.00001
NM_021072.4(HCN1):c.360G>A (p.Val120=) rs751582076 0.00001
NM_021072.4(HCN1):c.1146G>A (p.Gly382=)
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.1404A>G (p.Lys468=) rs763861424
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.159C>T (p.His53=) rs10066808
NM_021072.4(HCN1):c.1605C>T (p.Gly535=)
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.1761C>T (p.Ala587=)
NM_021072.4(HCN1):c.177C>A (p.Phe59Leu)
NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg)
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) rs56064803
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)
NM_021072.4(HCN1):c.1950A>C (p.Thr650=)
NM_021072.4(HCN1):c.1950A>G (p.Thr650=) rs750304269
NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys)
NM_021072.4(HCN1):c.199G>C (p.Gly67Arg) rs1427664939
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del) rs748849525
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup) rs747975797
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) rs747975797
NM_021072.4(HCN1):c.208G>C (p.Gly70Arg)
NM_021072.4(HCN1):c.2145A>G (p.Arg715=) rs903099002
NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)
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.2420C>G (p.Thr807Ser) rs1244303801
NM_021072.4(HCN1):c.2488G>T (p.Gly830Trp)
NM_021072.4(HCN1):c.2541G>A (p.Ser847=)
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.30G>T (p.Ser10=) rs1459956316
NM_021072.4(HCN1):c.313G>A (p.Gly105Arg)
NM_021072.4(HCN1):c.319A>G (p.Asn107Asp) rs2112108878
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021072.4(HCN1):c.416G>A (p.Ser139Asn)
NM_021072.4(HCN1):c.451A>G (p.Ile151Val) rs890733454
NM_021072.4(HCN1):c.459G>T (p.Met153Ile)
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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