List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance 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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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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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.652+5C>T	rs771669680	0.00001
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.512G>A (p.Arg171Gln)	rs1046275062
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)

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