ClinVar Miner

Variants with conflicting interpretations studied for Ehlers-Danlos syndrome, type 4

Coded as:
Minimum review status of the submission for Ehlers-Danlos syndrome, type 4: Collection method of the submission for Ehlers-Danlos syndrome, type 4:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2216 573 0 113 50 0 9 165

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Ehlers-Danlos syndrome, type 4 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 83 6 0 0
likely pathogenic 83 0 5 0 0
uncertain significance 6 5 0 45 10
likely benign 0 0 45 0 30
benign 0 0 10 30 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Ehlers-Danlos syndrome, type 4 2217 572 0 113 50 0 9 165

All variants with conflicting interpretations #

Total variants: 165
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00650
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00503
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00053
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.799-11A>T rs200148262 0.00021
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00017
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864 0.00015
NM_000090.4(COL3A1):c.2229+6G>A rs10186160 0.00015
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000090.4(COL3A1):c.1347+6T>C rs373343032 0.00011
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00009
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr) rs372329498 0.00004
NM_000090.4(COL3A1):c.2284-15T>A rs992793284 0.00003
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) rs551541918 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) rs560861999 0.00003
NM_000090.4(COL3A1):c.4012-11C>A rs1045459966 0.00003
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) rs760482912 0.00003
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00002
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00002
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly) rs369796561 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) rs1553507953 0.00001
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00001
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) rs376525602 0.00001
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.1870-14T>C rs201315795 0.00001
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474 0.00001
NM_000090.4(COL3A1):c.2446-5T>C rs1163013218 0.00001
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) rs998965783 0.00001
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484 0.00001
NM_000090.4(COL3A1):c.3824-14T>G rs762561768 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625 0.00001
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) rs1229792348 0.00001
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1189_1194+23del rs587779430
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.4(COL3A1):c.1348-2A>G rs2469130010
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=) rs975159988
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=) rs373963384
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs) rs2469135354
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1763_1769delinsTAAG rs587779510
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319
NM_000090.4(COL3A1):c.1870-2A>T rs587779575
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=) rs2469141143
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.4(COL3A1):c.2121+1G>C rs587779675
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.4(COL3A1):c.2262C>T (p.Val754=) rs2469145031
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) rs758992360
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.4(COL3A1):c.2932-6A>T rs1688561621
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) rs374527092
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.3201+10C>G rs372405344
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.4(COL3A1):c.3364-4C>G rs1310461523
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg) rs2469165958
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4255-10T>G rs751278507
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.799-6del rs767927599
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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