ClinVar Miner

List of variants in gene CC2D2A reported by GeneDx

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Total variants: 86
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1236G>A (p.Gly412=)
NM_001080522.2(CC2D2A):c.1360-119C>A
NM_001080522.2(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001080522.2(CC2D2A):c.1467-170C>T
NM_001080522.2(CC2D2A):c.1484G>A (p.Arg495His) rs373906628
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1720T>A (p.Tyr574Asn) rs768277071
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2004-263A>G
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2182-249T>C
NM_001080522.2(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2417C>T (p.Ala806Val) rs769808709
NM_001080522.2(CC2D2A):c.247+639G>A
NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) rs113835820
NM_001080522.2(CC2D2A):c.2487-292A>G
NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521
NM_001080522.2(CC2D2A):c.2728C>A (p.Arg910=) rs781206278
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.2829+9C>T rs1009676697
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.286G>A (p.Ala96Thr) rs376438052
NM_001080522.2(CC2D2A):c.2922+212C>A
NM_001080522.2(CC2D2A):c.2923-141C>T
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3076A>G (p.Lys1026Glu) rs759702917
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3113A>T (p.Asp1038Val) rs376913682
NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) rs371608031
NM_001080522.2(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3250T>A (p.Tyr1084Asn) rs751234041
NM_001080522.2(CC2D2A):c.3320T>G (p.Phe1107Cys) rs886041156
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.3595-22C>T rs4280724
NM_001080522.2(CC2D2A):c.3744G>T (p.Leu1248=) rs755747140
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.3880A>C (p.Ser1294Arg) rs1064795568
NM_001080522.2(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980
NM_001080522.2(CC2D2A):c.3976-18C>G rs375782772
NM_001080522.2(CC2D2A):c.3985G>C (p.Ala1329Pro) rs951039594
NM_001080522.2(CC2D2A):c.4066-94C>T
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4314+163C>T
NM_001080522.2(CC2D2A):c.438+261T>A
NM_001080522.2(CC2D2A):c.4438-137T>C
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001080522.2(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-87del
NM_001080522.2(CC2D2A):c.4675-89_4675-88insTT
NM_001080522.2(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001080522.2(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154
NM_001080522.2(CC2D2A):c.541-20T>G rs114335547
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.717+101C>T
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430
NM_001080522.2(CC2D2A):c.951G>A (p.Gly317=)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.263G>A (p.Arg88Gln) rs373080748
NM_020785.2(CC2D2A):c.282del (p.Gln94fs) rs1064793618
NM_020785.2(CC2D2A):c.39+217C>G
NM_020785.2(CC2D2A):c.40-274T>C

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