ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by OMIM

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146 0.00006
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864 0.00005
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817 0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001129.5(AEBP1):c.1630+1G>A rs369016031 0.00001
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) rs1443187318 0.00001
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) rs375845310 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110 0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
COL1A2, EX6DEL
COL3A1, GLY373ARG
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000007.13:g.94035075_94047591dup
NG_023212.2:g.(6563_77264)_(169258_191449)del
NG_042181.1:(g.89607_91434)_(105703_107097)del
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.472-1G>A rs72667020
NM_000088.4(COL1A1):c.472-2A>T rs72667019
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) rs1114167408
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp) rs67828806
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.4(COL1A2):c.1404+1G>C rs67162110
NM_000089.4(COL1A2):c.226-1G>C rs66820119
NM_000089.4(COL1A2):c.226-2A>G rs72656355
NM_000089.4(COL1A2):c.279+1G>A rs67398234
NM_000089.4(COL1A2):c.279+2T>C rs72656357
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile) rs72656356
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.4(COL1A2):c.3105+2T>C rs72659324
NM_000089.4(COL1A2):c.324+4del rs1791756559
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp) rs1114167416
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.4(COL1A2):c.432+5G>A rs72656364
NM_000089.4(COL1A2):c.540+5G>A rs72656367
NM_000089.4(COL1A2):c.70+717A>G rs72656354
NM_000090.4(COL3A1):c.1149+1G>A rs587779443
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1761+5G>T rs397509372
NM_000090.4(COL3A1):c.1869+5G>A rs397509376
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.4(COL3A1):c.2931+1G>A rs397509373
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.4(COL3A1):c.3093+1G>A rs869312034
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.3230G>T (p.Gly1077Val) rs121912915
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.582+6T>C rs397509375
NM_000090.4(COL3A1):c.650_1663-83del
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.3260_3366+1del rs2132830442
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.5(COL5A1):c.3906+3G>T rs786200922
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.5(COL5A1):c.5137-11T>A rs183495554
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000393.5(COL5A2):c.1617+4A>G rs1553515517
NM_000393.5(COL5A2):c.1924-2_1928del rs786205103
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_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001128225.3(SLC39A13):c.483_491del (p.Phe162_Ala164del)
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) rs1554327284
NM_001129.5(AEBP1):c.1470del (p.Asn490fs) rs1554327449
NM_001365276.2(TNXB):c.12220C>T (p.Arg4074Cys) rs587777682
NM_001365276.2(TNXB):c.2116_2117dup (p.Val706_Glu707insTer) rs144556766
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr) rs387907062
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter) rs387907063
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) rs1597210953
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs) rs2142314304
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer) rs770271683
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del) rs1430849353
NM_018699.3(PRDM5):c.946_1623del
NM_018699.4(PRDM5):c.93+1G>A rs1267369024
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) rs1553151294
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_130468.3(CHST14):c.[403C>G;410T>A]
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.4(CHST14):c.453dup (p.Cys152fs) rs1555410747
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs) rs1555410785
TNXB, 30-KB DEL

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