ClinVar Miner

List of variants in gene CACNA1S reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614

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