ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, vascular type by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1509+2T>C rs1553508039 0.00003
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000090.4(COL3A1):c.2023-1G>T rs587779708 0.00001
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala) rs1158155272 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000090.4(COL3A1):c.852+2T>C rs201314784 0.00001
NC_000002.11:g.(?_189852801)_(189855789_?)dup
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.4(COL3A1):c.1051-1G>C rs866316633
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser) rs2153502271
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu) rs2153502277
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg) rs868138294
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp) rs1688231067
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val) rs794728043
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu) rs2153502383
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000090.4(COL3A1):c.1294-1G>C rs1060500204
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) rs1688258933
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) rs886038952
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp) rs2153502405
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu) rs2153502406
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys) rs2153502433
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp) rs2153502447
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu) rs2153502448
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg)
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg)
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.4(COL3A1):c.1663-1G>A rs749145939
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg)
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) rs2153502685
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp)
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp) rs1688322272
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val) rs587779691
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys)
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser)
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.4(COL3A1):c.1816-2A>G
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys)
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu)
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser) rs2153502803
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) rs1576467133
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu)
NM_000090.4(COL3A1):c.1870-2A>T rs587779575
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser) rs1688384382
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg)
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) rs587779433
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser) rs2153502988
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp) rs1173194734
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala)
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del) rs1576468160
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala) rs587779512
NM_000090.4(COL3A1):c.2119_2121+11del rs2153503009
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg)
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp) rs1576468332
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala)
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.4(COL3A1):c.2229+1G>A rs1576468385
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp) rs1688417659
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg) rs1688418367
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys) rs2153503066
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg)
NM_000090.4(COL3A1):c.2283+1G>A rs1559058970
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg)
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del) rs2153503227
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp)
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp)
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp) rs2153503300
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg)
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val)
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp) rs2153503368
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg) rs2153503381
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2554-2A>G
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg)
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp) rs1688529460
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg)
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp) rs587779483
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser) rs2153503495
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser) rs2153503498
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg) rs1688532582
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2823+1G>T rs587779424
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.2843G>A (p.Gly948Glu) rs878853651
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu)
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys)
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg) rs2153503634
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)
NM_000090.4(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg) rs1688586251
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly)
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser)
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp)
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp) rs2153503790
NM_000090.4(COL3A1):c.3256-1G>A rs1688619749
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val) rs587779672
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg) rs2153503896
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)
NM_000090.4(COL3A1):c.334-2A>G rs1553506938
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val) rs2153503949
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val)
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) rs1576472890
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.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3526-1G>C
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.4(COL3A1):c.3823+1G>T rs1576473641
NM_000090.4(COL3A1):c.4012-2A>G rs1559063681
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu) rs1688732322
NM_000090.4(COL3A1):c.448-1G>T rs1688078187
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser) rs2153501643
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala) rs2153501733
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) rs2153501733
NM_000090.4(COL3A1):c.582+5G>A rs587779671
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.721G>A (p.Glu241Lys) rs1553507432
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser) rs2153501969
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg) rs2153501976
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu)
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.80-1G>C rs1559052551
NM_000090.4(COL3A1):c.80-2A>T rs2153501340
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val) rs587779644
NM_000090.4(COL3A1):c.852+1G>A
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser) rs1333066574
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg) rs2153502094
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.4(COL3A1):c.897+1G>A rs1057518372
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.944G>T (p.Gly315Val) rs587779487
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)
NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser) rs1688203788
NM_000090.4(COL3A1):c.997-1G>T rs587779687
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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