ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 7
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.3609+1G>C rs754831666
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs) rs1060499846

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