ClinVar Miner

List of variants reported as uncertain significance for Megaconial type congenital muscular dystrophy by Next Generation Genetic Polyclinic

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)	rs1177999891	0.00001
NM_005198.5(CHKB):c.392T>C (p.Leu131Pro)	rs2522786029
NM_005198.5(CHKB):c.539C>G (p.Pro180Arg)	rs757942378

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