ClinVar Miner

List of variants in gene CACNA2D4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00231
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_172364.5(CACNA2D4):c.1218C>T (p.Gly406=) rs200027649 0.00075
NM_172364.5(CACNA2D4):c.2190G>A (p.Ala730=) rs200973567 0.00042
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783 0.00030
NM_172364.5(CACNA2D4):c.1368C>T (p.Ile456=) rs745670628 0.00007
NM_172364.5(CACNA2D4):c.3282A>G (p.Pro1094=) rs112604068 0.00001
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586

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