ClinVar Miner

List of variants in gene LARGE1 studied for Walker-Warburg congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.823_824dup	rs140177888	0.00039
NM_133642.5(LARGE1):c.*770A>T	rs886057456	0.00010
NM_133642.5(LARGE1):c.-34G>A	rs759430272	0.00001

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