ClinVar Miner

List of variants reported as 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: 167
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189839206)_(189950508_?)del
NC_000002.11:g.(?_189839216)_(189839314_?)del
NC_000002.11:g.(?_189839216)_(190044330_?)del
NC_000002.11:g.(?_189839216)_(190445186_?)del
NC_000002.11:g.(?_189856193)_(189856974_?)del
NC_000002.11:g.(?_189860841)_(189861232_?)del
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000002.12:g.(?_188974480)_(189580648_?)del
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.4(COL3A1):c.1149+1G>A rs587779443
NM_000090.4(COL3A1):c.1150-1G>C rs587779520
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1348-2A>G
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.4(COL3A1):c.1442del (p.Ala481fs) rs1688268302
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs) rs2153502552
NM_000090.4(COL3A1):c.1609-2A>C rs2153502611
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg) rs1688305296
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1761+1G>A rs1688322811
NM_000090.4(COL3A1):c.1761+2T>C rs587779530
NM_000090.4(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.4(COL3A1):c.181del (p.Leu61fs) rs2153501353
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.4(COL3A1):c.1859del (p.Pro620fs) rs1576467144
NM_000090.4(COL3A1):c.1869+1G>C rs587779600
NM_000090.4(COL3A1):c.1869+5G>A rs397509376
NM_000090.4(COL3A1):c.1869+5G>T rs397509376
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.4(COL3A1):c.2022+2T>C rs587779429
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys) rs2153502995
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu) rs587779587
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val) rs587779442
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg) rs2153503061
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2284-2A>G rs587779558
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser) rs587779694
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.4(COL3A1):c.2337+2T>C rs587779513
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter) rs1460396340
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.4(COL3A1):c.2553+1G>A rs587779664
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
NM_000090.4(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser) rs121912913
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val) rs587779511
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser) rs1688561706
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter) rs2153503632
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3093+1G>T rs869312034
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.4(COL3A1):c.3202-2A>G rs587779682
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1]) rs771791598
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
NM_000090.4(COL3A1):c.3255+1G>C rs587779480
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter) rs1328301317
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys) rs2153503888
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val) rs587779610
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs) rs2153503895
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3417+2T>C
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs) rs1688663336
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
NM_000090.4(COL3A1):c.4011+1G>A
NM_000090.4(COL3A1):c.4011+1G>T rs112532745
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) rs587779707
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs) rs1688730568
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) rs587779420
NM_000090.4(COL3A1):c.582+6T>C rs397509375
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) rs2153501864
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del) rs2153501869
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp) rs587779533
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.691-1G>A
NM_000090.4(COL3A1):c.691-2A>G rs1576463100
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter) rs2153501942
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter) rs2153502051
NM_000090.4(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.4(COL3A1):c.952-2del rs2153502163
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.4(COL3A1):c.997-1G>C rs587779687

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