List of variants reported as 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
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.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	rs150877512	0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	rs193919337	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	rs386834039	0.00001
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	rs267606962
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022

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