ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome type 7A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000093.5(COL5A1):c.-364G>C rs780212970 0.00064
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000093.5(COL5A1):c.*2485G>A rs146334187 0.00057
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.*55G>A rs533831376 0.00039
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000093.5(COL5A1):c.-139G>T rs886063672 0.00022
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000393.4(COL5A2):c.-176T>A rs570350400 0.00021
NM_000093.5(COL5A1):c.*2294A>T rs571153134 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.*1734G>A rs886063688 0.00016
NM_000093.5(COL5A1):c.*1845A>G rs553877631 0.00016
NM_000093.5(COL5A1):c.*1848C>G rs886063692 0.00016
NM_000093.5(COL5A1):c.*2175G>A rs781775180 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000088.4(COL1A1):c.*1384_*1387del rs886053139 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.403-3T>C rs369733690 0.00010
NM_000093.5(COL5A1):c.*1887G>A rs886063693 0.00009
NM_000093.5(COL5A1):c.*2410C>G rs886063694 0.00009
NM_000093.5(COL5A1):c.*68C>T rs886063679 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000393.5(COL5A2):c.*126A>G rs755412373 0.00009
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000393.5(COL5A2):c.*1961T>C rs886055346 0.00007
NM_000393.5(COL5A2):c.*401A>C rs886055352 0.00007
NM_000088.4(COL1A1):c.*714C>T rs567392981 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_000093.5(COL5A1):c.*1788G>A rs886063690 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000393.5(COL5A2):c.*211T>A rs776264833 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.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000088.4(COL1A1):c.*251dup rs886053154 0.00002
NM_000093.5(COL5A1):c.*1787G>A rs886063689 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000393.5(COL5A2):c.2468T>C (p.Leu823Ser) rs372904150 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000093.5(COL5A1):c.*589G>A rs886063682 0.00001
NM_000093.5(COL5A1):c.*596A>G rs775044518 0.00001
NM_000093.5(COL5A1):c.1332+4dup rs886063674 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000393.5(COL5A2):c.*1460A>T rs886055349 0.00001
NM_000393.5(COL5A2):c.*1970T>G rs548360577 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 0.00001
NM_000393.5(COL5A2):c.799-7C>A rs879227018 0.00001
NM_000088.4(COL1A1):c.*1007_*1008del rs886053144
NM_000088.4(COL1A1):c.*1026TG[1] rs878983048
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*1027del rs878912123
NM_000088.4(COL1A1):c.*1029_*1031del rs886053143
NM_000088.4(COL1A1):c.*1030_*1031del rs886053142
NM_000088.4(COL1A1):c.*1045del rs886053141
NM_000088.4(COL1A1):c.*215del rs886053157
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*245_*246dup rs886053155
NM_000088.4(COL1A1):c.*245del rs886053156
NM_000088.4(COL1A1):c.*255dup rs886053153
NM_000088.4(COL1A1):c.*257_*258dup rs886053152
NM_000088.4(COL1A1):c.*258dup rs886053152
NM_000088.4(COL1A1):c.*259_*260insAT rs886053151
NM_000088.4(COL1A1):c.*998_*999del rs886053145
NM_000088.4(COL1A1):c.-78_-77delinsAA rs886053163
NM_000093.5(COL5A1):c.*1047_*1049dup rs886063686
NM_000093.5(COL5A1):c.*173C>T rs886063680
NM_000093.5(COL5A1):c.*1849ACAA[3] rs886063691
NM_000093.5(COL5A1):c.*2252T>C rs529530286
NM_000093.5(COL5A1):c.*235C>T rs886063681
NM_000093.5(COL5A1):c.*700G>C rs750272409
NM_000093.5(COL5A1):c.*727dup rs1554727609
NM_000093.5(COL5A1):c.*865dup rs57599653
NM_000093.5(COL5A1):c.*866_*867insTAG rs886063684
NM_000093.5(COL5A1):c.*867_*868insATAGG rs1554727637
NM_000093.5(COL5A1):c.-276AGG[7] rs886063671
NM_000093.5(COL5A1):c.-287G>C rs886063670
NM_000093.5(COL5A1):c.-357G>T rs886063669
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.5(COL5A1):c.5371-12C>T rs769740900
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000393.5(COL5A2):c.*1465G>T rs886055348
NM_000393.5(COL5A2):c.*1668C>G rs772852972
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.*1894C>A rs886055347
NM_000393.5(COL5A2):c.*590dup rs200554257
NM_000393.5(COL5A2):c.*694TA[1] rs886055351
NM_000393.5(COL5A2):c.*716A>G rs886055350
NM_000393.5(COL5A2):c.1350A>G (p.Gly450=) rs886055357
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.532C>T (p.His178Tyr) rs886055358
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.744+7G>A rs774993105

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.