List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
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_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	rs267606960	0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00004
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	rs745343484	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
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_017739.4(POMGNT1):c.1284+2_1284+19del	rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G	rs386834012
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	rs727504103
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)	rs1176001640
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)	rs749332339
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017739.4(POMGNT1):c.1895+1G>A	rs386834024
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)	rs1557677980
NM_017739.4(POMGNT1):c.478del (p.Met160fs)	rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	rs1424631447
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)	rs1156647434
NM_017739.4(POMGNT1):c.652+1G>A	rs386834035
NM_017739.4(POMGNT1):c.878del (p.Pro293fs)	rs752389406
NM_017739.4(POMGNT1):c.879+5G>T	rs386834038
NM_017739.4(POMGNT1):c.880-1G>C	rs1317832573
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	rs386834040

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