ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 544
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter) rs1333421028 0.00001
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val) rs587779588 0.00001
COL3A1, GLY373ARG
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.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla) rs587779579
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.1100_1117del (p.Gln367_Gly372del) rs587779525
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del) rs587779686
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.4(COL3A1):c.1149+1G>A rs587779443
NM_000090.4(COL3A1):c.1149+1G>T rs587779443
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1150-1G>C rs587779520
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC rs587779612
NM_000090.4(COL3A1):c.1189_1194+23del rs587779430
NM_000090.4(COL3A1):c.1194+1G>A rs587779459
NM_000090.4(COL3A1):c.1194+1G>C rs587779459
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
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.1268G>A (p.Gly423Asp) rs587779586
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1294-3T>G rs587779496
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
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.1347+1G>T rs397509370
NM_000090.4(COL3A1):c.1347+3A>C rs587779453
NM_000090.4(COL3A1):c.1347+5G>C rs587779721
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.1358G>A (p.Gly453Asp) rs587779621
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1410del (p.Gly471fs) rs587779665
NM_000090.4(COL3A1):c.1442del (p.Ala481fs) rs1688268302
NM_000090.4(COL3A1):c.1456-10T>G rs587779701
NM_000090.4(COL3A1):c.1456-13_1499del rs1553508025
NM_000090.4(COL3A1):c.1456-82_1977+177del
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs) rs2153502552
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu) rs587779693
NM_000090.4(COL3A1):c.1609-2A>C rs2153502611
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg) rs1688305296
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1662+1G>C rs587779535
NM_000090.4(COL3A1):c.1662+1G>T rs587779535
NM_000090.4(COL3A1):c.1662+2dup rs587779537
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
NM_000090.4(COL3A1):c.1701_2392-342del
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.4(COL3A1):c.1761+15_1870-100del
NM_000090.4(COL3A1):c.1761+1G>A rs1688322811
NM_000090.4(COL3A1):c.1761+2T>C rs587779530
NM_000090.4(COL3A1):c.1761+2T>G rs587779530
NM_000090.4(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1761+5G>T rs397509372
NM_000090.4(COL3A1):c.1762-2A>G rs587779722
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter) rs587779608
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.1808G>T (p.Gly603Val) rs587779477
NM_000090.4(COL3A1):c.1808del (p.Gly603fs) rs587779594
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.4(COL3A1):c.181del (p.Leu61fs) rs2153501353
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs) rs587779462
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.4(COL3A1):c.1859del (p.Pro620fs) rs1576467144
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
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.1870-2A>G rs587779575
NM_000090.4(COL3A1):c.1870-2A>T rs587779575
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.1898G>A (p.Gly633Glu) rs587779611
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs) rs1576467391
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.4(COL3A1):c.1923+1G>A rs587779573
NM_000090.4(COL3A1):c.1923+1G>C rs587779573
NM_000090.4(COL3A1):c.1923+2_1923+5del rs786200946
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.4(COL3A1):c.1974_1977+4del rs587779475
NM_000090.4(COL3A1):c.1977+2T>G rs587779603
NM_000090.4(COL3A1):c.1978-6_1981del rs587779700
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2022+2T>C rs587779429
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.4(COL3A1):c.2023-1G>A rs587779708
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
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.2051G>T (p.Gly684Val) rs587779587
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val) rs587779442
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
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.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
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.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg) rs2153503061
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.4(COL3A1):c.2284-108_3490del
NM_000090.4(COL3A1):c.2284-2A>G rs587779558
NM_000090.4(COL3A1):c.2284-667_3256-44del
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser) rs587779694
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.4(COL3A1):c.2337+1G>A rs587779663
NM_000090.4(COL3A1):c.2337+2T>C rs587779513
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
NM_000090.4(COL3A1):c.2338-31_3040-194del
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.4(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.4(COL3A1):c.2445+2dup rs587779572
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter) rs1460396340
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.4(COL3A1):c.2553+1G>A rs587779664
NM_000090.4(COL3A1):c.2553+1G>C rs587779664
NM_000090.4(COL3A1):c.2553+1del rs587779514
NM_000090.4(COL3A1):c.2553+2T>C rs587779684
NM_000090.4(COL3A1):c.2553+3A>T rs587779713
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2554-1G>A rs587779519
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.4(COL3A1):c.2607+5G>A rs587779457
NM_000090.4(COL3A1):c.2607+5G>T rs587779457
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC rs587779590
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu) rs1688528616
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.2708G>A (p.Gly903Glu) rs587779505
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.4(COL3A1):c.2798dup (p.Ser934fs)
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2823+1G>A rs587779424
NM_000090.4(COL3A1):c.2824-1G>A rs587779617
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.4(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser) rs121912913
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val) rs587779511
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
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.2931+1G>A rs397509373
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser) rs1688561706
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) rs1559061242
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.2977G>T (p.Gly993Cys) rs587779416
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser) rs587779548
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.4(COL3A1):c.3039+154_3525+223del
NM_000090.4(COL3A1):c.3039+1G>A rs587779506
NM_000090.4(COL3A1):c.3039+5G>A rs587779568
NM_000090.4(COL3A1):c.3039+6T>C rs587779532
NM_000090.4(COL3A1):c.3040-127_3255+107del
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del) rs587779529
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3093+1G>A rs869312034
NM_000090.4(COL3A1):c.3093+1G>T rs869312034
NM_000090.4(COL3A1):c.3093+2T>C rs587779503
NM_000090.4(COL3A1):c.3093+2T>G rs587779503
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
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.3122G>T (p.Gly1041Val) rs587779491
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) rs2153501416
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.3203G>T (p.Gly1068Val) rs587779551
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1]) rs771791598
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
NM_000090.4(COL3A1):c.3255+1G>A rs587779480
NM_000090.4(COL3A1):c.3255+1G>C rs587779480
NM_000090.4(COL3A1):c.3255+4del
NM_000090.4(COL3A1):c.3255+5G>A rs587779501
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
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.3266G>A (p.Gly1089Asp) rs587779672
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>A (p.Gly1095Asp) rs587779610
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.3293G>T (p.Gly1098Val) rs587779614
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.4(COL3A1):c.3364-2A>C rs587779546
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3417+1G>C rs587779444
NM_000090.4(COL3A1):c.3417+1G>T rs587779444
NM_000090.4(COL3A1):c.3417+2T>C
NM_000090.4(COL3A1):c.3417+4_3417+5del rs1553509630
NM_000090.4(COL3A1):c.3417+5G>A rs587779448
NM_000090.4(COL3A1):c.3418-1G>T rs587779562
NM_000090.4(COL3A1):c.3418-2A>G rs587779502
NM_000090.4(COL3A1):c.3418-2A>T rs587779502
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
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.3518G>T (p.Gly1173Val) rs121912918
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu) rs587779669
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) rs587779712
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs) rs1688663336
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs)
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs) rs587779647
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.406G>C (p.Gly136Arg) rs387906557
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.413del (p.Pro138fs) rs587779707
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) rs587779707
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) rs587779719
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs) rs1688730568
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) rs587779420
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.4(COL3A1):c.582+1G>C rs587779508
NM_000090.4(COL3A1):c.582+2dup rs587779524
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.582+5G>T rs587779671
NM_000090.4(COL3A1):c.582+5_582+11delinsACA rs1559053784
NM_000090.4(COL3A1):c.582+6T>A rs397509375
NM_000090.4(COL3A1):c.582+6T>C rs397509375
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.4(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup) rs587779628
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val) rs587779592
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA rs587779681
NM_000090.4(COL3A1):c.636+1G>A rs587779676
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
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.650_1663-83del
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) rs587779518
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.674G>T (p.Gly225Val) rs587779533
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.4(COL3A1):c.690+1G>A rs587779660
NM_000090.4(COL3A1):c.690+2T>A rs587779497
NM_000090.4(COL3A1):c.690+2T>G rs587779497
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.718G>C (p.Gly240Arg) rs587779468
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.4(COL3A1):c.766del (p.Ile256fs) rs587779455
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.798+1G>A rs587779463
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
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.827G>A (p.Gly276Asp) rs587779644
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.4(COL3A1):c.898-1G>C rs587779556
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
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.922C>T (p.Arg308Ter)
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.4(COL3A1):c.951+1G>A rs587779652
NM_000090.4(COL3A1):c.951+2T>A rs587779426
NM_000090.4(COL3A1):c.951+2T>C rs587779426
NM_000090.4(COL3A1):c.951+3G>T rs587779452
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.951+4_951+5del rs1559055162
NM_000090.4(COL3A1):c.951+5G>A rs587779422
NM_000090.4(COL3A1):c.951+6T>A rs587779423
NM_000090.4(COL3A1):c.951+6T>C rs587779423
NM_000090.4(COL3A1):c.951_951+14del rs587779425
NM_000090.4(COL3A1):c.952-2del rs2153502163
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
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.996+1G>A rs587779516
NM_000090.4(COL3A1):c.996+2T>A rs587779649
NM_000090.4(COL3A1):c.997-10A>G rs587779670
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000090.4(COL3A1):c.997-2A>G rs587779602
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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