List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1649+1G>A	rs752700398	0.00002
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	rs138745073	0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	rs762972459	0.00001
NM_017739.4(POMGNT1):c.1152+2T>C	rs1553163335	0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	rs386834014	0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	rs745343484	0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)	rs573518562	0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	rs760705290	0.00001
NM_017739.4(POMGNT1):c.236-1G>T	rs1057516477	0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_017739.4(POMGNT1):c.652+1G>T	rs386834035	0.00001
NM_017739.4(POMGNT1):c.751+1G>A	rs1247668825	0.00001
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)	rs1571659306
NM_017739.4(POMGNT1):c.1027-2_1027-1del	rs1057516536
NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)	rs2148192392
NM_017739.4(POMGNT1):c.1284+1G>A
NM_017739.4(POMGNT1):c.1284+2_1284+19del	rs1057516409
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)	rs1176001640
NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)
NM_017739.4(POMGNT1):c.1605-1_1605delinsCG
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)	rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)	rs1057516903
NM_017739.4(POMGNT1):c.1785+1G>A	rs2148166435
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)	rs886044567
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	rs1553164129
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.779_780del (p.Glu260fs)
NM_017739.4(POMGNT1):c.880-1G>C	rs1317832573

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