ClinVar Miner

List of variants reported as likely benign for Warburg micro syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_012233.3(RAB3GAP1):c.*303G>A rs72980321 0.00455
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203 0.00146
NM_012233.3(RAB3GAP1):c.*170C>T rs180839370 0.00010
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994 0.00002

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