ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001080522.2(CC2D2A):c.4437+1G>A rs786205568
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001080522.2(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430

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