ClinVar Miner

List of variants in gene ADAMTS13 reported as pathogenic by OMIM

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) rs121908475 0.00002
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys) rs121908469 0.00002
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) rs121908468 0.00001
NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr) rs121908474 0.00001
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) rs121908476
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs) rs387906342
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) rs387906346
NM_139027.6(ADAMTS13):c.331-1G>A rs786205078
NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs) rs387906341
NM_139027.6(ADAMTS13):c.414+1G>A rs786205077
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478

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