ClinVar Miner

List of variants in gene CC2D1A reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_017721.5(CC2D1A):c.1823+15C>G rs139110235 0.00641
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801 0.00283
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052 0.00076
NM_017721.5(CC2D1A):c.1940+5G>A rs753866885 0.00003
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1]) rs1028125077

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