ClinVar Miner

List of variants in gene RXYLT1 reported as pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.649del (p.Arg217fs) rs948674144
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543

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