ClinVar Miner

List of variants reported as likely benign for CACNA1C-related disorder

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) rs200602896 0.00025
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978 0.00022
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=) rs368817423 0.00019
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) rs200330326 0.00016
NM_000719.7(CACNA1C):c.5444+610G>A rs371574216 0.00012
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) rs202227691 0.00010
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) rs367783859 0.00009
NM_000719.7(CACNA1C):c.798C>T (p.Val266=) rs758394964 0.00009
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.5091+3G>A rs372915169 0.00007
NM_000719.7(CACNA1C):c.5785-5C>T rs750451768 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) rs781180544 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) rs780871697 0.00004
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5444+723C>T rs750984838 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=) rs940854113 0.00001
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=) rs374850501 0.00001
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) rs113417515 0.00001
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=) rs762515457 0.00001
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) rs763666740 0.00001
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) rs773869181 0.00001
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=)
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.3946-28T>C
NM_000719.7(CACNA1C):c.3946-46C>T rs112919597
NM_000719.7(CACNA1C):c.4726+13G>A rs561365937
NM_000719.7(CACNA1C):c.4727-50C>T
NM_000719.7(CACNA1C):c.478-11_478-10del rs750093371
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=)
NM_000719.7(CACNA1C):c.5766G>A (p.Leu1922=)
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del) rs781559449
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=)
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=)

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