ClinVar Miner

List of variants in gene CACNA1S reported by Athena Diagnostics Inc

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Total variants: 46
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1502G>T (p.Cys501Phe) rs767628675
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3525+7del rs759199210
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621

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