ClinVar Miner

List of variants in gene LARGE1, LOC130067280 studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.-177C>T	rs3210587	0.29884
NM_133642.5(LARGE1):c.-149G>C	rs143403352	0.01106

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