ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, musculocontractural type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_130468.4(CHST14):c.32C>T (p.Ala11Val) rs1030815676 0.00009
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00009
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00006
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.315G>A (p.Arg105=) rs903042632 0.00004
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 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.743G>C (p.Gly248Ala) rs778069410 0.00003
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.239G>A (p.Gly80Asp) rs371189136 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_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.77C>T (p.Pro26Leu) rs1321331803 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_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.1033dup (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.145del (p.Ala48_Val49insTer) rs397518432
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.313C>G (p.Arg105Gly)
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.458A>G (p.Tyr153Cys) rs1894349669
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.61G>A (p.Ala21Thr) rs1894339727
NM_130468.4(CHST14):c.628C>G (p.Leu210Val) rs1894353259
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
NM_130468.4(CHST14):c.637C>T (p.Arg213Trp) rs1894353511
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp) rs146662235
NM_130468.4(CHST14):c.654_655delinsTT (p.Leu219Phe)
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.709T>A (p.Tyr237Asn)
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.735C>T (p.Tyr245=)
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.971G>C (p.Arg324Pro)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728
NM_130468.4(CHST14):c.996C>T (p.Ser332=)

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