ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, dermatosparaxis type by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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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.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.2028C>T (p.Asp676=) rs1972715 0.24390
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
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.2291-8A>G rs140401199 0.04871
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_014244.5(ADAMTS2):c.2959-16G>A rs6863024 0.03326
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.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036 0.01013
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323 0.00928
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
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.3014C>T (p.Ala1005Val) rs79330641 0.00719
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
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.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_014244.5(ADAMTS2):c.2958+20C>T rs200469634 0.00242
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=) rs141369064 0.00135
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211 0.00108
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_014244.5(ADAMTS2):c.689-19C>T rs201779376 0.00093
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.764G>A (p.Arg255Gln) rs117222015 0.00048
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.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.1383-16C>T rs377462612 0.00026
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=) rs144235544 0.00011
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00003
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=) rs766855796 0.00001
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1383-5dup
NM_014244.5(ADAMTS2):c.139+19dup
NM_014244.5(ADAMTS2):c.1952-18del
NM_014244.5(ADAMTS2):c.2210-2del rs1219329381
NM_014244.5(ADAMTS2):c.2617+9dup rs745450151
NM_014244.5(ADAMTS2):c.2750+12dup
NM_014244.5(ADAMTS2):c.2751-16dup
NM_014244.5(ADAMTS2):c.2958+14del rs755404765
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.891+10del rs2113373949

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