ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by OMIM

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
COL1A2, EX6DEL
COL1A2, IVS11DS, G-A, +5
COL1A2, IVS24DS, G-C, +1
COL1A2, IVS6DS, G-A, +1
COL1A2, IVS6DS, G-A, -1
COL3A1, GLY373ARG
NG_007400.1:g.8207G>A rs72667022
NG_008159.1:g.(30134_30285)_(38781_39030)dup
NG_023212.2:g.(6563_77264)_(169258_191449)del
NM_000088.3(COL1A1):c.472-1G>A
NM_000088.3(COL1A1):c.472-2A>T
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.3(COL1A2):c.1404+1G>A rs67162110
NM_000089.3(COL1A2):c.226-1G>C rs66820119
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.279+2T>C rs72656357
NM_000089.3(COL1A2):c.293dup (p.Arg99Terfs) rs797044459
NM_000089.3(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.3(COL1A2):c.70+717A>G rs72656354
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) rs587779443
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+) rs397509370
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1761+5G>T rs397509372
NM_000090.3(COL3A1):c.1869+5G>A rs397509376
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.3(COL3A1):c.2553+5G>T rs397509371
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del) rs397509373
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.3(COL3A1):c.3093+1G>A rs869312034
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.582+6T>C rs397509375
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.3(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000093.4(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.4(COL5A1):c.2701-25T>G rs765079080
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.3752del (p.Pro1251Argfs) rs786205100
NM_000093.4(COL5A1):c.3906+3G>T rs786200922
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.5137-11T>A rs183495554
NM_000093.4(COL5A1):c.5370+3_5370+6delGAGT rs786200923
NM_000093.4(COL5A1):c.655-2A>G rs786205101
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.3(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.3(PLOD1):c.1651-2delA rs797044447
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.3(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.3(PLOD1):c.579+1G>A rs797044448
NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000393.4(COL5A2):c.1617+4A>G rs1553515517
NM_000393.4(COL5A2):c.1924-2_1928del rs786205103
NM_000393.4(COL5A2):c.2031+1G>T rs786205104
NM_000393.4(COL5A2):c.2553+2del rs1553514506
NM_000393.4(COL5A2):c.3148-2A>G rs1553513971
NM_000393.4(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.4(COL5A2):c.4298del (p.Ile1433Thrfs) rs1553512393
NM_000477.5(ALB):c.71G>A (p.Arg24Gln) rs74821926
NM_001110556.1(FLNA):c.116C>G (p.Ala39Gly) rs137853313
NM_001110556.1(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.1(FLNA):c.1966C>T (p.Leu656Phe) rs137853311
NM_001110556.1(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.1(FLNA):c.373+1G>A rs863223296
NM_001110556.1(FLNA):c.383C>T (p.Ala128Val) rs137853315
NM_001110556.1(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.1(FLNA):c.623-3C>G rs398123622
NM_001110556.1(FLNA):c.6915C>G (p.Tyr2305Ter) rs781910090
NM_001110556.1(FLNA):c.720+2T>C rs863223295
NM_001110556.1(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.2(FLNA):c.2762del (p.Arg921Glnfs)
NM_001110556.2(FLNA):c.287_291del (p.Arg96Hisfs) rs863223297
NM_001110556.2(FLNA):c.4147del (p.Ala1383Leufs) rs863223299
NM_001127464.2(ZNF469):c.10016G>A (p.Cys3339Tyr) rs387907062
NM_001127464.2(ZNF469):c.4174G>T (p.Glu1392Ter) rs387907063
NM_001128225.2(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363
NM_001129.4(AEBP1):c.1320_1326delGACCCAG (p.Arg440Serfs) rs1554327284
NM_001129.4(AEBP1):c.1470delC (p.Asn490Lysfs) rs1554327449
NM_001129.4(AEBP1):c.1630+1G>A rs369016031
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001733.6(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.6(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.6(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001733.7(C1R):c.149_150delTCinsAT (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.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001734.3(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_007255.2(B4GALT7):c.122T>C (p.Leu41Pro)
NM_007255.2(B4GALT7):c.277dupC (p.His93Profs) rs879255634
NM_007255.2(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864
NM_007255.2(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817
NM_007255.2(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_007255.2(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_013352.3(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.3(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_014244.4(ADAMTS2):c.2384G>A (p.Trp795Ter) rs137853147
NM_014244.4(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_017946.3(FKBP14):c.197+5_197+8delGTAA rs747353360
NM_017946.3(FKBP14):c.362dupC (p.Glu122Argfs) rs542489955
NM_017946.3(FKBP14):c.42_60del (p.Thr15Terfs)
NM_017946.3(FKBP14):c.573_575del (p.Glu191del)
NM_018699.3(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110
NM_018699.3(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111
NM_018699.3(PRDM5):c.946_1623del
NM_080605.3(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.3(B3GALT6):c.353del (p.Asp118Alafs) rs750088530
NM_080605.3(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.3(B3GALT6):c.588del (p.Arg197Alafs) rs533071750
NM_080605.3(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys)
NM_130468.3(CHST14):c.145del (p.Val49Terfs) rs397518432
NM_130468.3(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.3(CHST14):c.453dup (p.Cys152Leufs) rs1555410747
NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) rs121908257
NM_130468.3(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.3(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) rs121908258
NM_130468.3(CHST14):c.981_1000dup (p.Glu334Glyfs) rs1555410785
NM_130468.3(CHST14):c.[403C>G;410T>A]
NM_201442.3(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NR_037401.1(MIR3606):n.-6222_685del
PRDM5, 1-BP DEL, 947G
PRDM5, IVS1DS, G-A, +1
PRDM5, IVS1DS, T-C, +2
SLC39A13, 9-BP DEL, NT483
ZNF469, 1-BP DEL, 5943A
ZNF469, 1-BP DEL, 9527G

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