ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type 2

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.1926T>C (p.Asn642=) rs560644 0.95438
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) rs41313440 0.05356
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644 0.04562
NM_013352.4(DSE):c.101C>T (p.Pro34Leu) rs35548455 0.04141
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865 0.03160
NM_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
NM_013352.4(DSE):c.1118+15G>A rs116330739 0.01381
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922 0.00553
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614 0.00278
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) rs140975523 0.00153
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781 0.00116
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
NM_013352.4(DSE):c.1173G>A (p.Leu391=) rs146663575 0.00051
NM_013352.4(DSE):c.1653G>A (p.Leu551=) rs147124340 0.00051
NM_013352.4(DSE):c.1004G>A (p.Arg335His) rs371480627 0.00029
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) rs142885560 0.00024
NM_013352.4(DSE):c.2129C>T (p.Ala710Val) rs533772643 0.00021
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala) rs143226402 0.00021
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00019
NM_013352.4(DSE):c.2727T>C (p.Ile909=) rs199742443 0.00017
NM_013352.4(DSE):c.1221T>A (p.Pro407=) rs140103226 0.00016
NM_013352.4(DSE):c.910+20G>A rs376761852 0.00015
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_013352.4(DSE):c.1383T>A (p.Ala461=) rs200485959 0.00011
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) rs371043332 0.00011
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) rs146336077 0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=) rs200780195 0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=) rs370613241 0.00011
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 0.00009
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) rs535021192 0.00009
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser) rs376771433 0.00009
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) rs147451395 0.00009
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00008
NM_013352.4(DSE):c.1860C>T (p.Asp620=) rs376227527 0.00008
NM_013352.4(DSE):c.1005T>A (p.Arg335=) rs375802351 0.00007
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
NM_013352.4(DSE):c.1419C>T (p.Tyr473=) rs374010235 0.00006
NM_013352.4(DSE):c.208C>T (p.Arg70Cys) rs375337613 0.00006
NM_013352.4(DSE):c.2752A>G (p.Met918Val) rs780791978 0.00006
NM_013352.4(DSE):c.600A>G (p.Gln200=) rs150006874 0.00006
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln) rs367959320 0.00005
NM_013352.4(DSE):c.120C>T (p.Tyr40=) rs75392879 0.00004
NM_013352.4(DSE):c.1737C>T (p.Pro579=) rs765462761 0.00004
NM_013352.4(DSE):c.215C>T (p.Thr72Met) rs201564300 0.00004
NM_013352.4(DSE):c.2242C>T (p.His748Tyr) rs770096528 0.00004
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr) rs140764351 0.00004
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly) rs377694163 0.00004
NM_013352.4(DSE):c.730C>T (p.Leu244=) rs1041865456 0.00004
NM_013352.4(DSE):c.936G>A (p.Ala312=) rs543521325 0.00004
NM_013352.4(DSE):c.95T>C (p.Met32Thr) rs140765634 0.00004
NM_013352.4(DSE):c.1140G>A (p.Ser380=) rs756171586 0.00003
NM_013352.4(DSE):c.136C>T (p.Leu46=) rs754023509 0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=) rs769250716 0.00003
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_013352.4(DSE):c.189G>A (p.Ser63=) rs953029145 0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=) rs150939596 0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) rs199731077 0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=) rs762839207 0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=) rs751986225 0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=) rs765697282 0.00002
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser) rs775032838 0.00001
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) rs767730463 0.00001
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys) rs746187739 0.00001
NM_013352.4(DSE):c.1278A>G (p.Ala426=) rs1253141581 0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=) rs757356537 0.00001
NM_013352.4(DSE):c.1491C>T (p.Pro497=) rs768130032 0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=) rs200018749 0.00001
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe) rs1213902929 0.00001
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu) rs762084403 0.00001
NM_013352.4(DSE):c.17G>A (p.Arg6Gln) rs758271302 0.00001
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp) rs763787753 0.00001
NM_013352.4(DSE):c.2054T>C (p.Val685Ala) rs749911499 0.00001
NM_013352.4(DSE):c.2147G>A (p.Arg716His) rs549153887 0.00001
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn) rs779169990 0.00001
NM_013352.4(DSE):c.2221A>G (p.Ile741Val) rs780336360 0.00001
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys) rs752624508 0.00001
NM_013352.4(DSE):c.2334G>T (p.Leu778=) rs534248134 0.00001
NM_013352.4(DSE):c.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.243C>T (p.Ser81=) rs780478969 0.00001
NM_013352.4(DSE):c.2580A>G (p.Leu860=) rs1361177296 0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=) rs750711471 0.00001
NM_013352.4(DSE):c.2766T>C (p.Tyr922=) rs148311424 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.416+13C>T rs765373035 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_013352.4(DSE):c.670+12C>T rs190922886 0.00001
NM_013352.4(DSE):c.75C>T (p.Thr25=) rs752936676 0.00001
NM_013352.4(DSE):c.864G>A (p.Pro288=) rs780424278 0.00001
NM_013352.4(DSE):c.885A>C (p.Ala295=) rs1444681997 0.00001
NM_013352.4(DSE):c.911-15A>G rs1232495093 0.00001
NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal) rs56100880
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.102C>T (p.Pro34=)
NM_013352.4(DSE):c.1065A>G (p.Pro355=)
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.110A>T (p.Asn37Ile) rs371802983
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1197C>T (p.Val399=)
NM_013352.4(DSE):c.1203T>A (p.Thr401=)
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=)
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
NM_013352.4(DSE):c.1326A>G (p.Gly442=)
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser) rs1423707879
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn) rs2115094114
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu) rs757356537
NM_013352.4(DSE):c.144C>T (p.Phe48=)
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
NM_013352.4(DSE):c.1624G>T (p.Val542Leu)
NM_013352.4(DSE):c.162G>A (p.Ala54=)
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu) rs2115094990
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs) rs2115095071
NM_013352.4(DSE):c.1686T>A (p.His562Gln) rs2115095121
NM_013352.4(DSE):c.16C>A (p.Arg6=)
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
NM_013352.4(DSE):c.1705G>C (p.Val569Leu)
NM_013352.4(DSE):c.171G>T (p.Gln57His)
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
NM_013352.4(DSE):c.1752G>C (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1791T>C (p.Thr597=)
NM_013352.4(DSE):c.1809T>C (p.His603=)
NM_013352.4(DSE):c.182C>A (p.Ala61Asp) rs2114995025
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
NM_013352.4(DSE):c.1839C>T (p.Leu613=)
NM_013352.4(DSE):c.1887C>T (p.Thr629=)
NM_013352.4(DSE):c.1897G>A (p.Val633Met) rs550208733
NM_013352.4(DSE):c.1911G>C (p.Arg637=) rs2115096083
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.1929G>A (p.Gly643=)
NM_013352.4(DSE):c.192C>T (p.His64=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
NM_013352.4(DSE):c.1941G>A (p.Val647=)
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
NM_013352.4(DSE):c.201T>A (p.Ile67=)
NM_013352.4(DSE):c.2031C>T (p.His677=)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2049G>A (p.Leu683=)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
NM_013352.4(DSE):c.207C>A (p.Ala69=)
NM_013352.4(DSE):c.2097G>A (p.Trp699Ter)
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser) rs762120249
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys) rs762120249
NM_013352.4(DSE):c.2196C>A (p.Val732=)
NM_013352.4(DSE):c.21G>C (p.Gly7=)
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
NM_013352.4(DSE):c.2215G>T (p.Ala739Ser) rs1784179508
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter) rs1784181791
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
NM_013352.4(DSE):c.231G>T (p.Thr77=)
NM_013352.4(DSE):c.2358T>C (p.Thr786=) rs781704477
NM_013352.4(DSE):c.2364G>C (p.Glu788Asp)
NM_013352.4(DSE):c.237G>A (p.Leu79=)
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2463T>G (p.Ala821=)
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
NM_013352.4(DSE):c.2482del (p.Gln828fs) rs2115098611
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
NM_013352.4(DSE):c.2559T>A (p.Asp853Glu)
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
NM_013352.4(DSE):c.2631A>G (p.Lys877=)
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) rs113277624
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp) rs113277624
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
NM_013352.4(DSE):c.2646G>A (p.Gln882=) rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=)
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
NM_013352.4(DSE):c.2699A>G (p.Tyr900Cys)
NM_013352.4(DSE):c.276G>A (p.Lys92=)
NM_013352.4(DSE):c.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.277G>C (p.Asp93His)
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.27C>A (p.Pro9=)
NM_013352.4(DSE):c.27C>G (p.Pro9=)
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
NM_013352.4(DSE):c.2847G>A (p.Leu949=)
NM_013352.4(DSE):c.2877G>A (p.Ter959=)
NM_013352.4(DSE):c.325T>G (p.Leu109Val) rs1781471216
NM_013352.4(DSE):c.331A>G (p.Met111Val) rs866132678
NM_013352.4(DSE):c.33G>A (p.Val11=)
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
NM_013352.4(DSE):c.355A>C (p.Asn119His) rs1583172956
NM_013352.4(DSE):c.357C>T (p.Asn119=)
NM_013352.4(DSE):c.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.378C>T (p.Ala126=)
NM_013352.4(DSE):c.416+4G>C
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.447C>T (p.Val149=)
NM_013352.4(DSE):c.456T>C (p.Ala152=)
NM_013352.4(DSE):c.480del (p.Ala161fs)
NM_013352.4(DSE):c.483T>G (p.Ala161=) rs1554226781
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr) rs76186865
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
NM_013352.4(DSE):c.611A>G (p.Asn204Ser) rs2115065124
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
NM_013352.4(DSE):c.670+18C>T
NM_013352.4(DSE):c.670+20A>G
NM_013352.4(DSE):c.681A>G (p.Gln227=)
NM_013352.4(DSE):c.698C>A (p.Thr233Asn)
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.714C>G (p.Thr238=)
NM_013352.4(DSE):c.714C>T (p.Thr238=)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.780G>T (p.Ala260=)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.78C>T (p.Asp26=) rs146524076
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_013352.4(DSE):c.807C>T (p.Leu269=)
NM_013352.4(DSE):c.825C>A (p.Leu275=)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.874C>T (p.Gln292Ter)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142
NM_013352.4(DSE):c.903C>T (p.Ile301=)
NM_013352.4(DSE):c.910+10G>A
NM_013352.4(DSE):c.910+8G>A
NM_013352.4(DSE):c.910+9A>C
NM_013352.4(DSE):c.945T>C (p.Asn315=)
NM_013352.4(DSE):c.95T>A (p.Met32Lys) rs140765634
NM_013352.4(DSE):c.966A>G (p.Pro322=)
NM_013352.4(DSE):c.975A>G (p.Gln325=)
NM_013352.4(DSE):c.981G>A (p.Val327=) rs951430479

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