ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, dermatosparaxis type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552 0.93088
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776 0.72686
NM_014244.5(ADAMTS2):c.*212A>C rs10479525 0.47333
NM_014244.5(ADAMTS2):c.*842T>C rs10038484 0.46646
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213 0.33886
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212 0.33047
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829 0.32945
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615 0.30656
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918 0.24649
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715 0.24390
NM_014244.5(ADAMTS2):c.*1586A>G rs888760 0.23763
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205 0.23671
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209 0.23661
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644 0.17766
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583 0.17241
NM_014244.5(ADAMTS2):c.*847C>T rs78622875 0.09771
NM_014244.5(ADAMTS2):c.*853G>T rs17666900 0.09770
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199 0.04871
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769 0.04139
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211 0.02988
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609 0.02744
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371 0.02621
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
NM_014244.5(ADAMTS2):c.*2918G>A rs60250623 0.02037
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036 0.01013
NM_014244.5(ADAMTS2):c.*1819G>A rs115989271 0.00991
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323 0.00928
NM_014244.5(ADAMTS2):c.*1247C>T rs77506744 0.00924
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288 0.00902
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454 0.00766
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887 0.00764
NM_014244.5(ADAMTS2):c.*445G>A rs73806886 0.00754
NM_014244.5(ADAMTS2):c.*534G>A rs73806885 0.00754
NM_014244.5(ADAMTS2):c.*1719T>C rs56153390 0.00751
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641 0.00719
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837 0.00461
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211 0.00108
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342 0.00063
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367 0.00060
NM_014244.5(ADAMTS2):c.*288G>A rs59090242 0.00053
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669 0.00045
NM_014244.5(ADAMTS2):c.2085+11A>G rs139255728 0.00040
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821

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