ClinVar Miner

List of variants in gene CRPPA reported as likely benign for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7

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Total variants: 16
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NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) rs1032859096
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665

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