ClinVar Miner

List of variants in gene ADAMTS13 reported as pathogenic for not provided

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.3482T>C (p.Ile1161Thr) rs200847393 0.00007
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
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.1177C>T (p.Arg393Ter) rs782570540 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) rs373569027 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NC_000009.11:g.(?_136287564)_(136291485_?)del
NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys) rs281875288
NM_139027.6(ADAMTS13):c.1128_1132del (p.Glu376fs)
NM_139027.6(ADAMTS13):c.1335del (p.Phe445fs)
NM_139027.6(ADAMTS13):c.1393_1394del (p.Ala465fs) rs1564422441
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
NM_139027.6(ADAMTS13):c.2050C>T (p.Gln684Ter)
NM_139027.6(ADAMTS13):c.22dup (p.Ala8fs)
NM_139027.6(ADAMTS13):c.2728C>T (p.Arg910Ter)
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.3044+1G>A rs1057520680
NM_139027.6(ADAMTS13):c.3198_3199del (p.Cys1067fs)
NM_139027.6(ADAMTS13):c.3288dup (p.Asp1097Ter)
NM_139027.6(ADAMTS13):c.3448C>T (p.Arg1150Ter)
NM_139027.6(ADAMTS13):c.3567G>A (p.Trp1189Ter)
NM_139027.6(ADAMTS13):c.3573del (p.Leu1192fs)
NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)
NM_139027.6(ADAMTS13):c.870_876del (p.Gly291fs)
NM_139027.6(ADAMTS13):c.887dup (p.Pro297fs)
NM_139027.6(ADAMTS13):c.910dup (p.Tyr304fs)

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