ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy type B6 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) rs121908675 0.00001
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)

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