List of variants reported as likely pathogenic for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)	rs875989850	0.00003
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	rs397509425	0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)	rs764625823	0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)	rs780867515	0.00001
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.769-2A>G	rs2080423660
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)

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