ClinVar Miner

List of variants in gene CC2D1A reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
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.252G>A (p.Pro84=) rs7250180 0.09465
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633 0.00197
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017721.5(CC2D1A):c.1401C>T (p.Pro467=) rs200063565 0.00061
NM_017721.5(CC2D1A):c.705C>T (p.Ala235=) rs376336714 0.00014
NM_017721.5(CC2D1A):c.1545C>T (p.Asn515=) rs370475551 0.00007
NM_017721.5(CC2D1A):c.2115A>C (p.Thr705=) rs772349420 0.00004
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.531C>T (p.Leu177=) rs372771537

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