ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, musculocontractural type by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg) rs149649831 0.00052
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_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 0.00013
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00013
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_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00010
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) rs145999978 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_130468.4(CHST14):c.32C>T (p.Ala11Val) rs1030815676 0.00009
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr) rs150311697 0.00007
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.2429G>A (p.Arg810Gln) rs367959320 0.00005
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.95T>C (p.Met32Thr) rs140765634 0.00004
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro) rs1352733612 0.00004
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe) rs755535418 0.00004
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 0.00004
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00003
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) rs778069410 0.00003
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) rs1321331803 0.00003
NM_013352.4(DSE):c.121G>A (p.Asp41Asn) rs754763310 0.00002
NM_130468.4(CHST14):c.138G>C (p.Met46Ile) rs1466102278 0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val) rs780919131 0.00002
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro) rs749135787 0.00002
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr) rs1394541294 0.00002
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn) rs763410236 0.00002
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) rs781430388 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 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.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.2386A>G (p.Ile796Val) rs774012350 0.00001
NM_013352.4(DSE):c.404C>T (p.Ala135Val) rs370430595 0.00001
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) rs1057524129 0.00001
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) rs772159874 0.00001
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr) rs896003662 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln) rs1484119071 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) rs1017593366 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) rs370299419 0.00001
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp) rs766320306 0.00001
NM_130468.4(CHST14):c.871G>A (p.Val291Met) rs369563820 0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) rs1389417786 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter) rs1555410784 0.00001
NC_000015.9:g.(?_40763403)_(40764553_?)dup
NC_000015.9:g.(?_40763413)_(40764543_?)dup
NM_013352.4(DSE):c.101C>G (p.Pro34Arg) rs35548455
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
NM_013352.4(DSE):c.110A>G (p.Asn37Ser) rs371802983
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr) rs2115093579
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
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.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.1488_1506del (p.Pro497fs) rs2115094515
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn) rs2115094625
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
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>T (p.Arg6Trp)
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.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.1916A>T (p.Tyr639Phe) rs1784155007
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
NM_013352.4(DSE):c.2063C>T (p.Ala688Val) rs143443243
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
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.2213A>G (p.Tyr738Cys)
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.2401C>T (p.Gln801Ter)
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys) rs760979521
NM_013352.4(DSE):c.2465T>C (p.Val822Ala) rs778282572
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.2582A>G (p.Asp861Gly) rs2115099078
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
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.2641G>A (p.Gly881Arg)
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.277G>A (p.Asp93Asn) rs2114995361
NM_013352.4(DSE):c.2799del (p.Arg933fs) rs1339083714
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
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.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.364G>A (p.Ala122Thr) rs1781474657
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
NM_013352.4(DSE):c.480del (p.Ala161fs)
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.701A>G (p.Lys234Arg)
NM_013352.4(DSE):c.718A>G (p.Met240Val)
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
NM_013352.4(DSE):c.8C>A (p.Thr3Asn) rs1164317142
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.130A>G (p.Met44Val) rs1043447552
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe) rs1046833753
NM_130468.4(CHST14):c.151G>A (p.Val51Met) rs199749498
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) rs1475453618
NM_130468.4(CHST14):c.275G>T (p.Gly92Val) rs754720949
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn) rs1354036515
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) rs1235160320
NM_130468.4(CHST14):c.448C>G (p.Leu150Val) rs2141570771
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) rs756707600
NM_130468.4(CHST14):c.612G>T (p.Gln204His) rs1894353008
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) rs1894353259
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) rs146662235
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) rs1894354295
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln) rs751335857
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg) rs532315121
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) rs2141571079
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728

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