ClinVar Miner

List of variants studied for Warburg micro syndrome 1 by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900

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