ClinVar Miner

List of variants reported as likely pathogenic by The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

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Total variants: 12
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NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg) rs771214714
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly) rs199673903
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) rs1582637044
NM_000944.5(PPP3CA):c.1253_1254AG[1] (p.Ser419fs) rs1553920383
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001177316.2(SLC34A3):c.589A>G (p.Ile197Val)
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) rs1603377813
NM_015713.5(RRM2B):c.128T>A (p.Val43Asp) rs1587186073
NM_020751.3(COG6):c.540G>A (p.Glu180=) rs1593418085
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197

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