ClinVar Miner

List of variants reported as pathogenic for Miyoshi myopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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