ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NC_000007.13:g.(?_94024324)_(94025130_?)del
NC_000007.13:g.(?_94024324)_(94028416_?)del
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000009.11:g.(?_137534024)_(137660319_?)del
NC_000009.11:g.(?_137582738)_(137655603_?)del
NC_000009.11:g.(?_137582748)_(137619253_?)del
NC_000009.11:g.(?_137591735)_(137591988_?)del
NC_000009.11:g.(?_137593017)_(137727050_?)del
NC_000009.11:g.(?_137644415)_(137644511_?)del
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.3(COL1A2):c.1127G>T (p.Gly376Val)
NM_000089.3(COL1A2):c.1324G>A (p.Gly442Arg) rs1554396361
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg)
NM_000089.3(COL1A2):c.1378G>A (p.Gly460Ser) rs72658118
NM_000089.3(COL1A2):c.1478G>A (p.Gly493Glu) rs72658121
NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser) rs1554396679
NM_000089.3(COL1A2):c.1666G>T (p.Gly556Cys) rs1554396832
NM_000089.3(COL1A2):c.1892G>T (p.Gly631Val)
NM_000089.3(COL1A2):c.2098G>C (p.Gly700Arg)
NM_000089.3(COL1A2):c.2098G>T (p.Gly700Cys)
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser) rs72658185
NM_000089.3(COL1A2):c.2521G>A (p.Gly841Ser)
NM_000089.3(COL1A2):c.2565+1G>A rs72658198
NM_000089.3(COL1A2):c.2565+3_2565+6delAAGT
NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp) rs1554398261
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.3(COL1A2):c.2835+1G>A rs72659310
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp) rs72656360
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.3(COL1A2):c.586G>A (p.Gly196Ser)
NM_000089.3(COL1A2):c.638_639+6del rs1562900123
NM_000089.3(COL1A2):c.767G>T (p.Gly256Val) rs67525025
NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser) rs72656387
NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp) rs72656390
NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser) rs72656392
NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000093.4(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.4(COL5A1):c.1720-136_1929del
NM_000093.4(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.4(COL5A1):c.2034+1G>A rs886042173
NM_000093.4(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.4(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.4(COL5A1):c.226_227AG[1] (p.Arg76fs) rs1060502242
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2425G>T (p.Glu809Ter)
NM_000093.4(COL5A1):c.2430+1G>A rs1060502248
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
NM_000093.4(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.4(COL5A1):c.2952+2_2952+3del
NM_000093.4(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.4(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.4(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.4(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.4(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.4(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
NM_000093.4(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.4(COL5A1):c.4338+1G>A rs1564481053
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.4(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.4(COL5A1):c.4927C>T (p.Gln1643Ter)
NM_000093.4(COL5A1):c.494G>A (p.Trp165Ter)
NM_000093.4(COL5A1):c.5137-11T>A rs183495554
NM_000093.4(COL5A1):c.5155G>T (p.Glu1719Ter)
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
NM_000393.5(COL5A2):c.1924-4C>G rs1559085578
NM_000393.5(COL5A2):c.2031+1G>T rs786205104
NM_000393.5(COL5A2):c.2553+2del rs1553514506
NM_000393.5(COL5A2):c.3148-2A>G rs1553513971
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) rs1553512393
NM_000393.5(COL5A2):c.690+5G>T
NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs) rs1057519596
NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_001278074.1(COL5A1):c.2660del (p.Phe887fs)
NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs)
NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622
NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs)
NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_001278074.1(COL5A1):c.5370+3_5370+6del rs786200923

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