List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Baylor Genetics

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		ClinVar version:

Total variants: 75

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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_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)	rs1394199246	0.00003
NM_014244.5(ADAMTS2):c.2086-3C>T	rs756427989	0.00003
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_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_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
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.3488C>T (p.Pro1163Leu)
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)	rs1158116878
NM_000093.5(COL5A1):c.3007-14G>A	rs1838163235
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser)	rs1838247641
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)	rs1645810603
NM_000302.4(PLOD1):c.1756-13C>A
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.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.7A>T (p.Ser3Cys)	rs1770598850
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)	rs1768550579
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_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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