ClinVar Miner

List of variants in gene CD2AP reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 119
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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.*496A>G rs9463343 0.45596
NM_012120.3(CD2AP):c.*2759G>A rs719856 0.24576
NM_012120.3(CD2AP):c.*498A>G rs36077218 0.19726
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.*452C>G rs183129840 0.00945
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.*504A>G rs879228960 0.00838
NM_012120.2(CD2AP):c.*3047G>A rs116607853 0.00826
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.*494G>A rs867559785 0.00352
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.*319A>C rs532632702 0.00166
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.1673C>T (p.Ala558Val) rs146444716 0.00074
NM_012120.3(CD2AP):c.992T>A (p.Leu331His) rs140188898 0.00074
NM_012120.3(CD2AP):c.1530+12T>G rs201842906 0.00072
NM_012120.3(CD2AP):c.-130C>G rs886061516 0.00060
NM_012120.3(CD2AP):c.-166A>G rs1003986342 0.00042
NM_012120.3(CD2AP):c.*2470C>A rs376709257 0.00026
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.*762A>G rs1006749024 0.00019
NM_012120.3(CD2AP):c.*492G>A rs866946718 0.00015
NM_012120.3(CD2AP):c.*2309T>G rs747110506 0.00014
NM_012120.3(CD2AP):c.*1918A>C rs576753032 0.00012
NM_012120.3(CD2AP):c.*490G>A rs886061528 0.00011
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) rs142628238 0.00011
NM_012120.3(CD2AP):c.*20C>G rs149303011 0.00009
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.*706A>G rs889531551 0.00007
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.*866C>T rs886061539 0.00005
NM_012120.3(CD2AP):c.*166A>G rs567422637 0.00004
NM_012120.3(CD2AP):c.*2232C>T rs886061548 0.00004
NM_012120.3(CD2AP):c.*2037C>G rs886061544 0.00003
NM_012120.3(CD2AP):c.*2705A>G rs775329134 0.00003
NM_012120.3(CD2AP):c.*297T>A rs1044619698 0.00003
NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) rs145347609 0.00003
NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser) rs570511925 0.00003
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) rs758523796 0.00002
NM_012120.3(CD2AP):c.*1927T>G rs886061543 0.00001
NM_012120.3(CD2AP):c.*2445C>T rs886061550 0.00001
NM_012120.3(CD2AP):c.*2548G>A rs748856071 0.00001
NM_012120.3(CD2AP):c.1164A>C (p.Pro388=) rs933322359 0.00001
NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala) rs200024855 0.00001
NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg) rs886061518 0.00001
NM_012120.3(CD2AP):c.400A>G (p.Ile134Val) rs747832531 0.00001
NM_012120.3(CD2AP):c.675G>A (p.Val225=) rs908328150 0.00001
NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu) rs1034978918 0.00001
NM_012120.3(CD2AP):c.846T>C (p.Gly282=) rs931802678 0.00001
NM_012120.3(CD2AP):c.*1430dup rs145649247
NM_012120.3(CD2AP):c.*1466del rs886061541
NM_012120.3(CD2AP):c.*1606G>A rs886061542
NM_012120.3(CD2AP):c.*1G>A rs1002943996
NM_012120.3(CD2AP):c.*2116_*2118del rs886061545
NM_012120.3(CD2AP):c.*2117C>G rs1364938422
NM_012120.3(CD2AP):c.*2118T>A rs886061546
NM_012120.3(CD2AP):c.*2228dup rs138722443
NM_012120.3(CD2AP):c.*2321C>G rs956393348
NM_012120.3(CD2AP):c.*2369G>A rs886061549
NM_012120.3(CD2AP):c.*2394A>G rs1014136188
NM_012120.3(CD2AP):c.*2449C>A rs878891637
NM_012120.3(CD2AP):c.*326T>A rs1769851188
NM_012120.3(CD2AP):c.*367del rs797004904
NM_012120.3(CD2AP):c.*451_*452insGT rs886061523
NM_012120.3(CD2AP):c.*452_*455del rs886061524
NM_012120.3(CD2AP):c.*454GT[18] rs60486147
NM_012120.3(CD2AP):c.*454GT[19] rs60486147
NM_012120.3(CD2AP):c.*454GT[20] rs60486147
NM_012120.3(CD2AP):c.*454GT[22] rs60486147
NM_012120.3(CD2AP):c.*454GT[23] rs60486147
NM_012120.3(CD2AP):c.*454GT[24] rs60486147
NM_012120.3(CD2AP):c.*492_*497del rs886061529
NM_012120.3(CD2AP):c.*494_*499del rs886061530
NM_012120.3(CD2AP):c.*494_*503del rs777904165
NM_012120.3(CD2AP):c.*495_*496insGTAT rs886061525
NM_012120.3(CD2AP):c.*495_*496insGTGTAT rs886061525
NM_012120.3(CD2AP):c.*496AT[5] rs71538327
NM_012120.3(CD2AP):c.*496AT[7] rs71538327
NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG rs886061535
NM_012120.3(CD2AP):c.*496_*504delinsGTGTG rs886061536
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTGTG rs886061534
NM_012120.3(CD2AP):c.*549T>C rs1769867725
NM_012120.3(CD2AP):c.*652A>G rs886061537
NM_012120.3(CD2AP):c.*707G>A rs886061538
NM_012120.3(CD2AP):c.-167_-165del rs533900030
NM_012120.3(CD2AP):c.-4dup rs886061517
NM_012120.3(CD2AP):c.-55_-54insAGG rs560930115
NM_012120.3(CD2AP):c.-69C>A rs946137629
NM_012120.3(CD2AP):c.1148C>A (p.Ala383Glu) rs149300022
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896
NM_012120.3(CD2AP):c.1379del (p.Asp460fs) rs1562050952
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser) rs1332219962
NM_012120.3(CD2AP):c.1633-6T>A rs886061522
NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn) rs886061519
NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg) rs886061520
NM_012120.3(CD2AP):c.541+14T>A rs766983546
NM_012120.3(CD2AP):c.542-11T>C rs1768231418

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