ClinVar Miner

List of variants in gene LARGE1 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
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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 0.07871
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.*856G>A rs77663505 0.03428
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
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 0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
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 0.00831
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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