ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 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

Minimum submission review status:		Collection method:
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.839G>A (p.Ser280Asn)	rs142485035	0.00119
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	rs138745073	0.00001

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