ClinVar Miner

List of variants in gene ADAMTS2 reported as likely benign for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_014244.5(ADAMTS2):c.*1247C>T rs77506744
NM_014244.5(ADAMTS2):c.*1437_*1438del rs375426260
NM_014244.5(ADAMTS2):c.*1579_*1585del rs539443462
NM_014244.5(ADAMTS2):c.*1819G>A rs115989271
NM_014244.5(ADAMTS2):c.*2196T>A rs147985762
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769
NM_014244.5(ADAMTS2):c.*2918G>A rs60250623
NM_014244.5(ADAMTS2):c.*847C>T rs78622875
NM_014244.5(ADAMTS2):c.*853G>T rs17666900
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=) rs758041605
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=) rs139943837
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=) rs377085746
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=) rs182103023
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261
NM_014244.5(ADAMTS2):c.2750+10C>T rs1045751866
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys) rs144138766
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895
NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=) rs1554094148
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=) rs143069972
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609

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