ClinVar Miner

List of variants reported as likely pathogenic for myositis disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_001128227.3(GNE):c.51+1G>A
NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1593_1597del (p.Lys532fs)
NM_005476.7(GNE):c.1595dup (p.Leu534fs)
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1861del (p.Ala621fs)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.555dup (p.Tyr186fs)
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164

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