ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome type 7A

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
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_000393.5(COL5A2):c.*1402T>G rs11186 0.09269
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000393.5(COL5A2):c.*392T>C rs1131518 0.07495
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000393.5(COL5A2):c.*639G>A rs73981487 0.05878
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000393.5(COL5A2):c.*1165G>A rs13914 0.04890
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.*1562A>G rs116561240 0.02592
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.*724C>T rs116156416 0.02219
NM_000393.5(COL5A2):c.*2131T>A rs113513554 0.02206
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_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
NM_000393.5(COL5A2):c.*1400A>G rs12886 0.01556
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.*1806C>T rs11556648 0.01480
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.*660G>A rs73664168 0.01440
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000393.5(COL5A2):c.*2062G>A rs77821675 0.01359
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.*423C>T rs77413180 0.01358
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_000393.5(COL5A2):c.*1379A>G rs114330868 0.01303
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000393.5(COL5A2):c.*515C>T rs113311693 0.01221
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.*629A>G rs150345666 0.00897
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000393.5(COL5A2):c.*798A>G rs116775405 0.00567
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000393.5(COL5A2):c.*391A>G rs143552248 0.00486
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000393.5(COL5A2):c.*1076G>A rs114123906 0.00382
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
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_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
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.*58C>T rs56259444 0.00207
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000393.5(COL5A2):c.*446G>A rs570467727 0.00032
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000393.5(COL5A2):c.*561T>C rs564981830 0.00011
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000088.4(COL1A1):c.*21G>C rs201085309 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) rs748856187 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) rs763025405 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000093.5(COL5A1):c.*1653dup rs541530510
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.961-3del rs542134887

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.