ClinVar Miner

List of variants reported as pathogenic for congenital vitreoretinal dysplasia by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_001243766.1(POMGNT1):c.1539+1G>A rs138642840
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900

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