List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	rs200056620	0.00008
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	rs1032439203	0.00006
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	rs1564364615	0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	rs119462985	0.00001
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)	rs587777819
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	rs765230689

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