ClinVar Miner

List of variants in gene ADAMTS17 reported as likely benign for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01156
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00574
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00273
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00161
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_139057.4(ADAMTS17):c.*959C>T rs141144986 0.00019
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316

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