ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy by Genetic Services Laboratory, University of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs) rs1554371369

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