ClinVar Miner

List of variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209 0.00001
LARGE1, GLN87FS
NG_009929.2:g.523149_586240del
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe) rs267607210

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