ClinVar Miner

List of variants in gene CD2AP studied for not specified

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503 0.98009
NM_012120.3(CD2AP):c.-54T>A rs9349406 0.96104
NM_012120.3(CD2AP):c.1814+24G>A rs9395287 0.60411
NM_012120.3(CD2AP):c.1108+82T>C rs2275446 0.60386
NM_012120.3(CD2AP):c.421-25G>A rs9473132 0.60273
NM_012120.3(CD2AP):c.1879-66T>C rs10948368 0.39074
NM_012120.3(CD2AP):c.1045+36C>A rs1014001 0.31333
NM_012120.3(CD2AP):c.1275-20G>A rs9473135 0.02990
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_012120.3(CD2AP):c.1743T>A (p.Asn581Lys) rs34069459 0.01090
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_012120.3(CD2AP):c.219A>G (p.Glu73=) rs7749045 0.00792
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00367
NM_012120.3(CD2AP):c.809-11C>A rs76153148 0.00230
NM_012120.3(CD2AP):c.4+16G>A rs370143870 0.00193
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_012120.3(CD2AP):c.1417+19C>T rs185609509 0.00015
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) rs141778404 0.00009
NM_012120.3(CD2AP):c.1375G>C (p.Val459Leu) rs774081495 0.00002
NM_012120.3(CD2AP):c.1275-18G>A rs886038583
NM_012120.3(CD2AP):c.904-38_904-37dup rs34735056
NM_012120.3(CD2AP):c.904-39_904-37dup rs34735056

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