ClinVar Miner

List of variants in gene POMGNT1 reported as uncertain significance for Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; 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.269G>A (p.Arg90His)	rs139701867	0.00021
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	rs375420073	0.00003

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