ClinVar Miner

List of variants in gene CC2D2A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_001378615.1(CC2D2A):c.2003+720G>A rs118128075 0.00280
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_001378615.1(CC2D2A):c.247+452C>T rs570923728 0.00249
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00121
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00117
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00031
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00029
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00011
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00011
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val) rs768733110 0.00011
NM_001378615.1(CC2D2A):c.881-8C>T rs114387988 0.00009
NM_001378615.1(CC2D2A):c.4518A>G (p.Glu1506=) rs772272007 0.00007
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=) rs764246302 0.00001
NM_001378615.1(CC2D2A):c.2348T>A (p.Phe783Tyr) rs374294064 0.00001
NM_001378615.1(CC2D2A):c.247+448G>A rs1064797307 0.00001
NM_001378615.1(CC2D2A):c.3414T>C (p.Asp1138=) rs780482620 0.00001
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu) rs768439693 0.00001
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr) rs762773515 0.00001
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.1005del (p.Met336fs)
NM_001378615.1(CC2D2A):c.123+476T>C rs2474825790
NM_001378615.1(CC2D2A):c.123+483C>T rs2474825826
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3260C>T (p.Thr1087Ile) rs1577382579
NM_001378615.1(CC2D2A):c.4213G>A (p.Gly1405Ser) rs757410220
NM_001378615.1(CC2D2A):c.4491A>G (p.Gln1497=) rs863225179
NM_001378615.1(CC2D2A):c.482A>C (p.Gln161Pro) rs777341305
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.868A>T (p.Ser290Cys) rs1553826739

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