ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000089.4(COL1A2):c.647G>A (p.Arg216His) rs756743425 0.00002
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser) rs769600024 0.00001
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala) rs928361235 0.00001
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776 0.00001
NC_000002.11:g.(?_189839206)_(189950508_?)del
NC_000002.11:g.(?_189913190)_(189918176_?)del
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137676815)_(137677914_?)del
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser) rs1064796419
NM_000089.4(COL1A2):c.1089+1G>A
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala) rs121912912
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val) rs1554396271
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del) rs1791941199
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser) rs755058199
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg) rs1554396612
NM_000089.4(COL1A2):c.1503+1G>A rs1554396615
NM_000089.4(COL1A2):c.1503+1G>C rs1554396615
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) rs121912910
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala) rs1554396680
NM_000089.4(COL1A2):c.1764+1G>T rs72658140
NM_000089.4(COL1A2):c.1765-2del
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp) rs72658142
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala) rs72658142
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp) rs2115917059
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala) rs1792043985
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg) rs1792044352
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu) rs2115917195
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu) rs2115917306
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys) rs193922162
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala) rs72658145
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
NM_000089.4(COL1A2):c.2026-2A>G
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala) rs2115927860
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu) rs1792108068
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser) rs121912908
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser) rs1562905246
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val) rs1792140624
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg) rs72658185
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala) rs2115933783
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu) rs1554397975
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp) rs2115941022
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) rs1305819869
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.280-2A>G rs2115874899
NM_000089.4(COL1A2):c.280-2del
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
NM_000089.4(COL1A2):c.2943+1G>C rs1562907190
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser) rs2115953343
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup) rs1554398396
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val) rs1584315950
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys) rs72659325
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala) rs2115957255
NM_000089.4(COL1A2):c.3159+1G>A
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu) rs2115875189
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val) rs72659335
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser) rs1554395411
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys) rs2115959866
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del) rs2115962258
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro) rs759477389
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs) rs1792353123
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter) rs2115969692
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val) rs1562899031
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
NM_000089.4(COL1A2):c.433-2A>G rs1554395471
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg) rs2115879081
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val) rs768263997
NM_000089.4(COL1A2):c.538_540+11del
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg) rs1791793058
NM_000089.4(COL1A2):c.595-2A>G rs72656375
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val) rs72656377
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp) rs193922173
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val) rs1584318303
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val) rs1562900513
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg) rs1554395970
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp) rs1791858238
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn) rs2115890442
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
NM_000093.5(COL5A1):c.110-1G>C rs1833255504
NM_000093.5(COL5A1):c.1431+1G>A
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1569+1G>A rs2132682690
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter) rs895691193
NM_000093.5(COL5A1):c.1662+1G>A rs1835753446
NM_000093.5(COL5A1):c.1720-1G>A rs1835880166
NM_000093.5(COL5A1):c.1774-1G>A rs2132690733
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val) rs777506210
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.2034+2T>A
NM_000093.5(COL5A1):c.2134-2_2150dup
NM_000093.5(COL5A1):c.2331+1G>A
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2429_2430+26del
NM_000093.5(COL5A1):c.2431-1G>A
NM_000093.5(COL5A1):c.2484+1G>T rs1564455577
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter) rs1837403402
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
NM_000093.5(COL5A1):c.2700+2T>C rs1588551226
NM_000093.5(COL5A1):c.2701-1G>A
NM_000093.5(COL5A1):c.278-1G>T
NM_000093.5(COL5A1):c.3006+1G>A
NM_000093.5(COL5A1):c.3114+1G>A rs1838169083
NM_000093.5(COL5A1):c.3205-1G>C
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3529-1G>T rs1588577214
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.4015-1G>A
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4069-1G>T rs1564478485
NM_000093.5(COL5A1):c.4176+1G>T
NM_000093.5(COL5A1):c.4231-2A>G
NM_000093.5(COL5A1):c.4393-1G>A
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg) rs1838935159
NM_000093.5(COL5A1):c.4554+1G>C rs1564482508
NM_000093.5(COL5A1):c.474_491+24del
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs) rs1839191116
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
NM_000093.5(COL5A1):c.4955-1G>C
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
NM_000093.5(COL5A1):c.5067+1G>A rs1839245948
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC rs1839537297
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.5(COL5A1):c.655-1917_690del
NM_000093.5(COL5A1):c.655-1G>A
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000093.5(COL5A1):c.786+1G>A
NM_000093.5(COL5A1):c.786+5G>T
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.925-2A>C rs2132639011
NM_000393.5(COL5A2):c.1159-1G>A
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg) rs1686209873
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
NM_000393.5(COL5A2):c.1924-11T>C
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2031+1G>A
NM_000393.5(COL5A2):c.2130+1G>A rs2105579086
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
NM_000393.5(COL5A2):c.2553+1G>T
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) rs1685785467
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg) rs1685586746
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.568-316_3525+41del
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.98-1G>T rs2105712615
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224

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