ClinVar Miner

List of variants reported as pathogenic for autosomal recessive distal myopathy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) rs1168346560
NM_213599.2(ANO5):c.1898+1G>A rs142027093
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523

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