ClinVar Miner

List of variants studied for Warburg micro syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 1; Martsolf syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)	rs2104943498
NM_012233.3(RAB3GAP1):c.419_420del (p.Leu140fs)
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)

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