ClinVar Miner

List of variants reported as likely pathogenic 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: 2
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HGVS dbSNP
NM_018191.4(RCBTB1):c.1172+1G>A rs869312819
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688

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