ClinVar Miner

List of variants studied for Miyoshi muscular dystrophy 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486
NM_003494.3(DYSF):c.2643+1G>A rs140108514

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