List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	rs386834018	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	rs397509425	0.00001
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)	rs1282726649	0.00001
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)	rs1554371369
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)	rs1434252108
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)	rs386834028

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