ClinVar Miner

List of variants in gene DYSF reported as likely pathogenic for Miyoshi muscular dystrophy 1

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Total variants: 5
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HGVS dbSNP
NM_003494.3(DYSF):c.1168G>A (p.Asp390Asn) rs886042389
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.5594G>A (p.Gly1865Asp)
NM_003494.3(DYSF):c.701G>A (p.Gly234Glu) rs141497053

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