ClinVar Miner

List of variants studied for Miyoshi myopathy by GenomeConnect, ClinGen

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
NM_001142649.2(ANO5):c.986dup (p.Leu329fs) rs398124626
NM_213599.2(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202

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