ClinVar Miner

List of variants in gene ADAMTS13 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]
NM_139025.4(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471
NM_139025.4(ADAMTS13):c.1345C>T (p.Gln449Ter) rs121908476
NM_139025.4(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933
NM_139025.4(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139025.4(ADAMTS13):c.1584+5G>A rs782235228
NM_139025.4(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139025.4(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299
NM_139025.4(ADAMTS13):c.2074C>T (p.Arg692Cys) rs121908475
NM_139025.4(ADAMTS13):c.2209T>C (p.Cys737Arg) rs1554791280
NM_139025.4(ADAMTS13):c.2376_2401del (p.Ala793fs) rs387906342
NM_139025.4(ADAMTS13):c.2851T>G (p.Cys951Gly) rs121908468
NM_139025.4(ADAMTS13):c.2863dup (p.Trp955fs)
NM_139025.4(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139025.4(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
NM_139025.4(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) rs387906346
NM_139025.4(ADAMTS13):c.304C>T (p.Arg102Cys) rs121908469
NM_139025.4(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472
NM_139025.4(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218
NM_139025.4(ADAMTS13):c.331-1G>A rs786205078
NM_139025.4(ADAMTS13):c.3541G>A (p.Gly1181Arg) rs192619276
NM_139025.4(ADAMTS13):c.3638G>A (p.Cys1213Tyr) rs121908474
NM_139025.4(ADAMTS13):c.3770dup (p.Leu1258fs) rs387906341
NM_139025.4(ADAMTS13):c.414+1G>A rs786205077
NM_139025.4(ADAMTS13):c.4143dup (p.Glu1382fs) rs387906343
NM_139025.4(ADAMTS13):c.581G>T (p.Gly194Val) rs1554785242
NM_139025.4(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470
NM_139025.4(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478
NM_139025.4(ADAMTS13):c.803G>C (p.Arg268Pro) rs121908477

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