ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Baylor Genetics

Included ClinVar conditions (71):
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Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys) rs570806090 0.00008
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) rs549874193 0.00008
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) rs387907063 0.00005
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_014244.5(ADAMTS2):c.2086-3C>T rs756427989 0.00003
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) rs903409672 0.00001
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) rs571207087 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp) rs761498949 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) rs1192635116 0.00001
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val) rs1422897152 0.00001
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu) rs1792148801
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg) rs1688231206
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro) rs770525372
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu)
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) rs1158116878
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.3007-14G>A rs1838163235
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) rs1838247641
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) rs1685785467
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) rs781946233
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter) rs2096226168
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter) rs2096232673
NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp) rs913206509
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) rs1778570345
NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln) rs61729739
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) rs985304000
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) rs770222232
NM_013352.4(DSE):c.2215G>T (p.Ala739Ser) rs1784179508
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.95T>A (p.Met32Lys) rs140765634
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=) rs1397278885
NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His) rs1413406706
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp) rs1638554377
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp) rs1004549168
NM_130468.4(CHST14):c.61G>A (p.Ala21Thr) rs1894339727
NM_130468.4(CHST14):c.637C>T (p.Arg213Trp) rs1894353511

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