ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.798+5G>A rs1296613540
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606
NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) rs184813324
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544
NM_001365276.2(TNXB):c.861G>A (p.Arg287=) rs1406340228
NM_001367624.1(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107
NM_001733.7(C1R):c.336G>C (p.Met112Ile) rs139531404
NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu) rs76704342
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Leu27_Leu28insArg) rs1561778823

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