ClinVar Miner

List of variants in gene CC2D2A reported by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter) rs116358011 0.00057
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NC_000004.12:g.15563877_15580021del
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro) rs200707391
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4730_4731delinsTGTATA (p.Ala1577fs) rs2148497420

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