ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
NM_130468.4(CHST14):c.210C>T (p.Pro70=) rs191997027 0.00111
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_130468.4(CHST14):c.993C>A (p.Ala331=) rs138273557 0.00022
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) rs766643057 0.00019
NM_130468.4(CHST14):c.471G>A (p.Val157=) rs200761477 0.00018
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp) rs577809616 0.00010
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.151G>C (p.Val51Leu) rs199749498 0.00008
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00006
NM_130468.4(CHST14):c.447C>T (p.Phe149=) rs761965484 0.00006
NM_130468.4(CHST14):c.567G>A (p.Val189=) rs758319940 0.00006
NM_130468.4(CHST14):c.1119G>A (p.Ala373=) rs149555952 0.00005
NM_130468.4(CHST14):c.111G>C (p.Pro37=) rs746603977 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.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.891C>G (p.Gly297=) rs772809123 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.252C>T (p.Arg84=) rs1377145039 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.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_130468.4(CHST14):c.861G>A (p.Gln287=) rs772452727 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.171del (p.Leu58fs) rs1256212335 0.00001
NM_130468.4(CHST14):c.180C>T (p.Ile60=) rs938393246 0.00001
NM_130468.4(CHST14):c.189C>T (p.Gly63=) rs1398111943 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130468.4(CHST14):c.217C>T (p.Leu73=) rs1482604204 0.00001
NM_130468.4(CHST14):c.297C>T (p.Asp99=) rs1328842726 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.378C>G (p.Pro126=) rs752221539 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.45C>G (p.Ala15=) rs1566969002 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.580C>T (p.Leu194=) rs1310579126 0.00001
NM_130468.4(CHST14):c.582G>A (p.Leu194=) rs1377861803 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.642G>A (p.Glu214=) rs146662235 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.732G>C (p.Arg244=) rs1208945086 0.00001
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu) rs1321331803 0.00001
NM_130468.4(CHST14):c.801G>C (p.Leu267=) rs998708059 0.00001
NM_130468.4(CHST14):c.822C>G (p.Arg274=) rs111456654 0.00001
NM_130468.4(CHST14):c.843C>T (p.Pro281=) rs778120798 0.00001
NM_130468.4(CHST14):c.871G>A (p.Val291Met) rs369563820 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 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
NM_130468.4(CHST14):c.978C>T (p.Ala326=) rs576061822 0.00001
NM_130468.4(CHST14):c.99G>A (p.Gly33=) rs545629118 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.1038C>T (p.Ala346=)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val) rs1566969372
NM_130468.4(CHST14):c.1086T>C (p.Phe362=) rs2141571343
NM_130468.4(CHST14):c.1101T>C (p.Pro367=) rs1189242847
NM_130468.4(CHST14):c.1104T>C (p.Asn368=) rs1351942431
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
NM_130468.4(CHST14):c.114C>G (p.Pro38=) rs2141570382
NM_130468.4(CHST14):c.117G>A (p.Leu39=) rs2141570389
NM_130468.4(CHST14):c.130A>G (p.Met44Val) rs1043447552
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
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.156_166del (p.Ser53fs) rs1293915082
NM_130468.4(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
NM_130468.4(CHST14):c.201_202del (p.Glu67fs)
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly) rs1475453618
NM_130468.4(CHST14):c.255G>A (p.Gly85=) rs2141570543
NM_130468.4(CHST14):c.264del (p.Lys89fs)
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.303C>T (p.Asp101=) rs2141570597
NM_130468.4(CHST14):c.312G>T (p.Val104=)
NM_130468.4(CHST14):c.313C>G (p.Arg105Gly)
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
NM_130468.4(CHST14):c.315del (p.Gln106fs)
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
NM_130468.4(CHST14):c.409C>T (p.Leu137=) rs2141570724
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.462C>T (p.Val154=) rs1478974228
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn) rs1555410748
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
NM_130468.4(CHST14):c.494del (p.Val165fs)
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
NM_130468.4(CHST14):c.516C>T (p.Val172=)
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro) rs756707600
NM_130468.4(CHST14):c.53_57del (p.Leu18fs)
NM_130468.4(CHST14):c.609G>T (p.Leu203=) rs2141570922
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.651A>G (p.Glu217=)
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe) rs1894354295
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
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.714G>C (p.Gly238=)
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser) rs1894355892
NM_130468.4(CHST14):c.735C>T (p.Tyr245=)
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
NM_130468.4(CHST14):c.750G>T (p.Gly250=) rs1402353708
NM_130468.4(CHST14):c.755_851del (p.Ser252fs) rs1555410768
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg) rs2141571079
NM_130468.4(CHST14):c.783del (p.Glu262fs)
NM_130468.4(CHST14):c.834T>C (p.His278=)
NM_130468.4(CHST14):c.846G>A (p.Val282=)
NM_130468.4(CHST14):c.846G>C (p.Val282=) rs139191820
NM_130468.4(CHST14):c.849C>T (p.Tyr283=) rs1438289059
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
NM_130468.4(CHST14):c.88del (p.Ala30fs)
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
NM_130468.4(CHST14):c.971G>C (p.Arg324Pro)
NM_130468.4(CHST14):c.977C>T (p.Ala326Val) rs1234827728
NM_130468.4(CHST14):c.984C>T (p.Tyr328=) rs747403269
NM_130468.4(CHST14):c.996C>T (p.Ser332=)
NM_130468.4(CHST14):c.999C>T (p.Pro333=)

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