ClinVar Miner

List of variants in gene CC2D1A studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala) rs199717745 0.00060
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His) rs201420492 0.00055
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly) rs187418052 0.00023
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr) rs201374643 0.00016
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr) rs202025962 0.00007
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val) rs201665162 0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His) rs760191095 0.00004
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His) rs542798158 0.00004
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His) rs576457697 0.00003
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn) rs1180111779 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His) rs1194702277 0.00001
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) rs779620838 0.00001
NM_017721.5(CC2D1A):c.511_513+1del rs777057767 0.00001
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp) rs774357851
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=) rs1971378002
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn) rs1971475798
NM_017721.5(CC2D1A):c.1764+1G>C rs2145350143
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1]) rs1028125077
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs) rs1423002835
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
NM_017721.5(CC2D1A):c.2711-2A>G
NM_017721.5(CC2D1A):c.2836-3C>A
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys) rs1568405628
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
NM_017721.5(CC2D1A):c.61-2A>G
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile) rs781498477

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