ClinVar Miner

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

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_000089.3(COL1A2):c.*194C>T rs1060399
NM_000089.3(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.3(COL1A2):c.1665+15A>G rs421587
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.246T>C (p.Asp82=) rs1800222
NM_000089.3(COL1A2):c.87T>C (p.Thr29=) rs1801182
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*799_*800delAG rs13306265
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_001127464.2(ZNF469):c.*870delT rs35684712
NM_001367624.1(ZNF469):c.*1001A>G rs3848234
NM_001367624.1(ZNF469):c.*551_*577TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.1(ZNF469):c.*618T>G rs3859020
NM_001367624.1(ZNF469):c.*788G>A rs3894713
NM_001367624.1(ZNF469):c.*8G>A rs45504291
NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.1(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066
NM_001367624.1(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794
NM_001367624.1(ZNF469):c.10990= (p.Ala3664=) rs904783
NM_001367624.1(ZNF469):c.11757A>G (p.Pro3919=) rs4782301
NM_001367624.1(ZNF469):c.11856C>T (p.Ser3952=) rs4782362
NM_001367624.1(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961
NM_001367624.1(ZNF469):c.1776A>G (p.Pro592=) rs12927001
NM_001367624.1(ZNF469):c.2130T>C (p.Pro710=) rs12918876
NM_001367624.1(ZNF469):c.3153T>C (p.Ile1051=) rs9924504
NM_001367624.1(ZNF469):c.3522G>A (p.Pro1174=) rs9938800
NM_001367624.1(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071
NM_001367624.1(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300
NM_001367624.1(ZNF469):c.4419T>G (p.Ser1473=) rs12445417
NM_001367624.1(ZNF469):c.5661C>G (p.Thr1887=) rs9931465
NM_001367624.1(ZNF469):c.6462G>A (p.Pro2154=) rs61472141
NM_001367624.1(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474
NM_001367624.1(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956
NM_001367624.1(ZNF469):c.8604C>T (p.Arg2868=) rs3812953
NM_001367624.1(ZNF469):c.8627A>G (p.His2876Arg) rs1983014
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918
NM_014244.5(ADAMTS2):c.*1586A>G rs888760
NM_014244.5(ADAMTS2):c.*212A>C rs10479525
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209
NM_014244.5(ADAMTS2):c.*842T>C rs10038484
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.5(ADAMTS2):c.47_49TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_018699.3(PRDM5):c.1031-6dup rs35363618
NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) rs12499000
NM_018699.3(PRDM5):c.681A>G (p.Leu227=) rs343192

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.