ClinVar Miner

List of variants in gene CACNA1C reported as benign by Ambry Genetics

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) rs113157354 0.00006
NM_000719.7(CACNA1C):c.5785-5C>T rs750451768 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=) rs766851793 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=) rs374858814 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.4956+5G>C rs758948589 0.00002
NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn) rs769917254 0.00002
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr) rs749753740 0.00001
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) rs760543068 0.00001

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