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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)	rs86487	0.39804
NM_133642.5(LARGE1):c.-63C>T	rs16992986	0.09348
NM_133642.5(LARGE1):c.*921C>G	rs16992034	0.07557
NM_133642.5(LARGE1):c.-397C>G	rs114106875	0.07319
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)	rs17722172	0.04733
NM_133642.5(LARGE1):c.*154C>A	rs73399512	0.03456
NM_133642.5(LARGE1):c.*207G>A	rs16992036	0.03294
NM_133642.5(LARGE1):c.*856G>A	rs77663505	0.03206
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)	rs36002910	0.02325
NM_133642.5(LARGE1):c.*740A>G	rs116335813	0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)	rs11913417	0.02196
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)	rs73399520	0.01746
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)	rs63446460	0.01373
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)	rs8142483	0.00887
NM_133642.5(LARGE1):c.*1201A>G	rs11544101	0.00840
NM_133642.5(LARGE1):c.-83+63217G>C	rs114574565	0.00771
NM_133642.5(LARGE1):c.-31G>A	rs117199378	0.00694
NM_133642.5(LARGE1):c.-83+63202T>G	rs147343461	0.00215
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)	rs115076367	0.00140

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