ClinVar Miner

List of variants reported as uncertain significance for X-linked scapuloperoneal muscular dystrophy

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys)	rs1379221574	0.00002
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)	rs1603270381
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)	rs56391414

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