ClinVar Miner

List of variants studied for Warburg micro syndrome 2 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

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

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_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys)	rs755157552	0.00001
NM_012414.4(RAB3GAP2):c.2090A>G (p.Asn697Ser)
NM_012414.4(RAB3GAP2):c.3101T>G (p.Phe1034Cys)

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