List of variants in gene RXYLT1 reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_014254.3(RXYLT1):c.325+1G>T	rs1592838547	0.00001
NM_014254.3(RXYLT1):c.914+6T>G	rs748809209	0.00001
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter)	rs1565899712

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