ClinVar Miner

List of variants in gene LARGE1 reported as likely benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_004737.6(LARGE1):c.1878-11G>T rs200819807
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720

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