ClinVar Miner

List of variants in gene HCN1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 53
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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.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.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.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.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.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.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.1404A>G (p.Lys468=) rs763861424
NM_021072.4(HCN1):c.159C>T (p.His53=) rs10066808
NM_021072.4(HCN1):c.1605C>T (p.Gly535=)
NM_021072.4(HCN1):c.1761C>T (p.Ala587=)
NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg)
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.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.2145A>G (p.Arg715=) rs903099002
NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)
NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser) rs1244303801
NM_021072.4(HCN1):c.2541G>A (p.Ser847=)
NM_021072.4(HCN1):c.30G>T (p.Ser10=) rs1459956316
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951

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