List of variants in gene POMGNT1 studied 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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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.187C>T (p.Arg63Ter)	rs193919337	0.00001
NM_017739.4(POMGNT1):c.236-1G>T	rs1057516477	0.00001
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	rs141421141
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	rs1553164129
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)

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