List of variants in gene POMGNT2 reported as pathogenic for Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)	rs374042455	0.00002
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr)	rs1559414655	0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)	rs768063378	0.00001

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