ClinVar Miner

List of variants reported as pathogenic for Warburg micro syndrome 2 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569

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