ClinVar Miner

List of variants in gene POMGNT1 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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Minimum conflict level: Report conflict between different conditions
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: 2

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)	rs768700187	0.00001
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	rs141421141

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