List of variants reported 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)	rs148498470	0.00010
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	rs371741722	0.00006
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.107G>A (p.Arg36Gln)	rs768700187	0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)	rs774554415	0.00001
NM_017739.4(POMGNT1):c.652+5C>T	rs771669680	0.00001
NM_017739.4(POMGNT1):c.1027-2_1027-1del	rs1057516536
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)	rs534543454
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly)	rs727504103
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)	rs1057516903
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	rs141421141
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)	rs1046275062

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