ClinVar Miner

List of variants in gene CD2AP reported as benign for Focal segmental glomerulosclerosis 3, susceptibility to

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Total variants: 31
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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.*2339T>C rs2152796 0.94798
NM_012120.3(CD2AP):c.*2039T>C rs1043276 0.61813
NM_012120.3(CD2AP):c.*2759G>A rs719856 0.24576
NM_012120.3(CD2AP):c.*500A>G rs35361796 0.19036
NM_012120.3(CD2AP):c.*502A>G rs35274349 0.17025
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
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 0.00843
NM_012120.3(CD2AP):c.*2241A>T rs151064033 0.00507
NM_012120.3(CD2AP):c.*186A>T rs9381582 0.00392
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_012120.3(CD2AP):c.*2355G>A rs141029774 0.00301
NM_012120.3(CD2AP):c.809-11C>A rs76153148 0.00230
NM_012120.3(CD2AP):c.*160A>G rs112547257 0.00209
NM_012120.3(CD2AP):c.*828G>C rs187393492 0.00197
NM_012120.3(CD2AP):c.*1208C>A rs28403574 0.00119
NM_012120.3(CD2AP):c.1014A>G (p.Pro338=) rs150304098 0.00113
NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) rs141881558 0.00098
NM_012120.3(CD2AP):c.1530+12T>G rs201842906 0.00072
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) rs142643033 0.00026
NM_012120.3(CD2AP):c.165+13A>G rs368408367 0.00024
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_012120.3(CD2AP):c.*1918A>C rs576753032 0.00012
NM_012120.3(CD2AP):c.*20C>G rs149303011 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.*1017T>A rs192279940 0.00006
NM_012120.3(CD2AP):c.1531-15T>A rs200506346 0.00006
NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser) rs570511925 0.00003

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