ClinVar Miner

List of variants in gene CACNA2D4 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=) rs60945277 0.22589
NM_172364.5(CACNA2D4):c.1599A>G (p.Ser533=) rs7966806 0.16201
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_172364.5(CACNA2D4):c.1068+13G>A rs61386831 0.12491
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216 0.10702
NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=) rs758160 0.10656
NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=) rs73038195 0.06912
NM_172364.5(CACNA2D4):c.2035C>T (p.Leu679=) rs2286372 0.06118
NM_172364.5(CACNA2D4):c.2316C>T (p.Phe772=) rs11836202 0.05504
NM_172364.5(CACNA2D4):c.3310-4G>A rs80092457 0.02675
NM_172364.5(CACNA2D4):c.2793-15G>A rs147575839 0.02191
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn) rs62621429 0.02126
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg) rs115228472 0.01555
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529 0.00229
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)

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