ClinVar Miner

List of variants in gene CACNA2D4 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=) rs192991525 0.00277
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.2190G>A (p.Ala730=) rs200973567 0.00042
NM_172364.5(CACNA2D4):c.3348A>T (p.Ser1116=) rs368886623 0.00038
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783 0.00030
NM_172364.5(CACNA2D4):c.3323A>C (p.Asp1108Ala) rs201175802 0.00019
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_172364.5(CACNA2D4):c.2975-7C>T rs377755809 0.00008

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