ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_000393.5(COL5A2):c.322+157C>T rs4128538 0.86911
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.19207
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_000302.4(PLOD1):c.77-3407C>T rs75220940 0.01953
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000093.5(COL5A1):c.925-44C>T rs41302966 0.01210
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_000302.4(PLOD1):c.77-3370G>A rs112799470 0.00836
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00045
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.852G>A (p.Pro284=) rs150092345 0.00031
NM_000302.4(PLOD1):c.1471-9C>G rs376476977 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000302.4(PLOD1):c.644-11C>T rs375303994 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.691-15T>G rs756189756 0.00001
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.77-3320G>C rs2100738654
NM_000302.4(PLOD1):c.77-3339C>T
NM_000302.4(PLOD1):c.77-3351T>C rs1397591568
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106
NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)
NM_000393.5(COL5A2):c.1404T>C (p.Gly468=) rs1686161677
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly) rs1685415940
NM_000393.5(COL5A2):c.744+19T>C
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515

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.