ClinVar Miner

List of variants reported as pathogenic for Miyoshi muscular dystrophy 3 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter) rs768835530

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