ClinVar Miner

List of variants reported as likely 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_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274

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