ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000266.4(NDP):c.-77A>G rs869312820
NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284
NM_018191.4(RCBTB1):c.1172+1G>A rs869312819
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688

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