ClinVar Miner

List of variants in gene CACNA1H reported as likely benign by Athena Diagnostics Inc

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050 0.00109
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met) rs28365116 0.00071
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) rs568224207 0.00026
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=) rs777641943 0.00016
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 0.00007
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) rs779012601 0.00003
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) rs375199752 0.00002
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) rs372453886 0.00001
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=) rs755913742
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=) rs1242284062
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=) rs374262237

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