ClinVar Miner

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

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240
NM_139025.4(ADAMTS13):c.1585-1G>C rs1554789680
NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139025.4(ADAMTS13):c.330+1G>A rs375415632
NM_139025.4(ADAMTS13):c.3543del (p.Gln1183fs) rs1060499780
NM_139025.4(ADAMTS13):c.4105_4221del (p.Thr1369_Thr1407del) rs1554797078
NM_139025.4(ADAMTS13):c.415-1G>A
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) rs148312697
NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287

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