ClinVar Miner

List of variants studied for TWIST1-related craniosynostosis by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.1230T>C (p.Ala410=) rs35493131 0.08759
NM_006494.4(ERF):c.981C>T (p.Ser327=) rs61735151 0.05337
NM_006494.4(ERF):c.1104T>C (p.Ser368=) rs76105803 0.03247
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) rs139842507 0.01177
NM_006494.4(ERF):c.24G>A (p.Gly8=) rs200969503 0.00135
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) rs111793182 0.00133
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_006494.4(ERF):c.1057A>G (p.Met353Val) rs149405304 0.00085
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_006494.4(ERF):c.840G>A (p.Ser280=) rs145699948 0.00053
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389 0.00046
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) rs533363033 0.00043
NM_006494.4(ERF):c.659C>A (p.Pro220His) rs200767779 0.00043
NM_006494.4(ERF):c.405G>A (p.Val135=) rs144678577 0.00041
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly) rs925811677 0.00039
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser) rs545987863 0.00036
NM_006494.4(ERF):c.257+8C>T rs137956794 0.00033
NM_006494.4(ERF):c.1614G>A (p.Thr538=) rs183334082 0.00030
NM_006494.4(ERF):c.673C>T (p.Leu225=) rs35578793 0.00029
NM_006494.4(ERF):c.264C>T (p.Tyr88=) rs140522983 0.00022
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_006494.4(ERF):c.1263G>C (p.Pro421=) rs750423382 0.00009
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val) rs1305059157 0.00006
NM_006494.4(ERF):c.1152C>T (p.Leu384=) rs772786203 0.00005
NM_006494.4(ERF):c.36G>A (p.Pro12=) rs371076249 0.00005
NM_006494.4(ERF):c.885C>T (p.Ser295=) rs758048419 0.00005
NM_006494.4(ERF):c.132C>T (p.Gly44=) rs192294053 0.00004
NM_006494.4(ERF):c.1461C>T (p.Arg487=) rs371796869 0.00004
NM_006494.4(ERF):c.450C>T (p.Ser150=) rs747218945 0.00004
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) rs763588724 0.00004
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg) rs764764288 0.00003
NM_006494.4(ERF):c.1478G>A (p.Arg493His) rs762382429 0.00003
NM_006494.4(ERF):c.819C>T (p.Thr273=) rs200872722 0.00003
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu) rs376130330 0.00002
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu) rs753010203 0.00002
NM_006494.4(ERF):c.208C>T (p.Arg70Cys) rs756869919 0.00002
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys) rs753014847 0.00002
NM_000474.4(TWIST1):c.134G>A (p.Ser45Asn) rs2522202 0.00001
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser) rs1310233431 0.00001
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val) rs1230428800 0.00001
NM_000474.4(TWIST1):c.546G>T (p.Arg182=) rs115322362 0.00001
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440 0.00001
NM_006494.4(ERF):c.247C>A (p.Arg83=) rs766762597 0.00001
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NM_006494.4(ERF):c.824T>C (p.Leu275Pro) rs756557668 0.00001
NC_000007.13:g.(?_19156336)_(19157207_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000019.9:g.(?_42703590)_(42778729_?)del
NC_000019.9:g.(?_42759120)_42759196del
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
NM_000474.4(TWIST1):c.142G>A (p.Gly48Ser)
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val) rs1788590971
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
NM_000474.4(TWIST1):c.180C>T (p.Val60=) rs565371578
NM_000474.4(TWIST1):c.185GCG[3] (p.Gly63_Asp64insGly)
NM_000474.4(TWIST1):c.197del (p.Pro66fs) rs1585617611
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.203G>T (p.Ser68Ile)
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
NM_000474.4(TWIST1):c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly)
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
NM_000474.4(TWIST1):c.245GCG[7] (p.Gly85_Gly86dup) rs754552080
NM_000474.4(TWIST1):c.253_276dup (p.Gly85_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del) rs544465774
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs) rs2115396985
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly)
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000474.4(TWIST1):c.262GGC[6] (p.Gly92dup) rs750238627
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup) rs1554442039
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del) rs772470139
NM_000474.4(TWIST1):c.276_293dup (p.Ser99_Pro100insSerSerGlyGlyGlySer)
NM_000474.4(TWIST1):c.277AGC[5] (p.Ser95_Gly96insSerSer)
NM_000474.4(TWIST1):c.277dup (p.Ser93fs) rs1585617402
NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) rs757253926
NM_000474.4(TWIST1):c.328C>G (p.Arg110Gly)
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) rs1585617188
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs) rs2115396782
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) rs1554442101
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter) rs2115396763
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly) rs1554442016
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) rs1233220987
NM_000474.4(TWIST1):c.359G>A (p.Arg120His)
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro) rs1788582586
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) rs1585617108
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro) rs1554442008
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.375C>G (p.Asn125Lys)
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000474.4(TWIST1):c.388G>C (p.Ala130Pro)
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup) rs1554441992
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) rs1563159980
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del) rs2115396671
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met) rs757121861
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr) rs1585616989
NM_000474.4(TWIST1):c.406C>G (p.Pro136Ala)
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.415C>T (p.Pro139Ser) rs2115396651
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) rs1788580776
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu) rs1554441987
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) rs1788580326
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) rs1788580225
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser) rs1788580225
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) rs1788580077
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) rs1788579980
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.455C>T (p.Ala152Val)
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) rs2115396578
NM_000474.4(TWIST1):c.472T>C (p.Phe158Leu) rs2115396574
NM_000474.4(TWIST1):c.474C>G (p.Phe158Leu) rs2115396572
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe) rs1563159945
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) rs1585616825
NM_000474.4(TWIST1):c.484del (p.Val162fs) rs1788579060
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
NM_000474.4(TWIST1):c.510dup (p.Lys171fs) rs2115396517
NM_000474.4(TWIST1):c.51G>C (p.Leu17=)
NM_000474.4(TWIST1):c.530_537dup (p.His180fs) rs2115396467
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) rs2115397248
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) rs2115396414
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) rs1585617865
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter) rs104894055
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_000474.4(TWIST1):c.94G>C (p.Gly32Arg)
NM_006494.4(ERF):c.-44_22+11del rs1568475667
NM_006494.4(ERF):c.1021del (p.Gln341fs)
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs) rs1064796715
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del) rs199960550
NM_006494.4(ERF):c.110T>C (p.Leu37Pro) rs2036426238
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006494.4(ERF):c.1243_1245del (p.Ala415del) rs759202471
NM_006494.4(ERF):c.1306_1309dup (p.Glu437fs) rs2146948133
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly) rs766642440
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
NM_006494.4(ERF):c.144G>A (p.Trp48Ter) rs2036425705
NM_006494.4(ERF):c.1500del (p.Ala501fs)
NM_006494.4(ERF):c.1602C>T (p.Leu534=) rs2146947253
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006494.4(ERF):c.199T>G (p.Trp67Gly) rs141468833
NM_006494.4(ERF):c.223C>T (p.Gln75Ter) rs1568472771
NM_006494.4(ERF):c.23-9C>T
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.257G>A (p.Arg86His) rs765295141
NM_006494.4(ERF):c.272dup (p.Arg92fs)
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
NM_006494.4(ERF):c.374-16G>A
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006494.4(ERF):c.408G>A (p.Pro136=)
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
NM_006494.4(ERF):c.427del (p.Arg143fs) rs2036410199
NM_006494.4(ERF):c.477C>A (p.Pro159=)
NM_006494.4(ERF):c.532G>C (p.Ala178Pro) rs767011693
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) rs1555750816
NM_006494.4(ERF):c.597G>A (p.Pro199=) rs778540681
NM_006494.4(ERF):c.615C>G (p.Arg205=) rs11557114
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.71C>G (p.Ser24Ter) rs2146952114
NM_006494.4(ERF):c.733del (p.Leu245fs) rs1555750741
NM_006494.4(ERF):c.748G>C (p.Val250Leu) rs2036399893
NM_006494.4(ERF):c.762C>T (p.Ala254=)
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
NM_006494.4(ERF):c.813G>A (p.Thr271=) rs367694248
NM_006494.4(ERF):c.823C>T (p.Leu275=)
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006494.4(ERF):c.911_913del (p.Ser304del) rs2146949300
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)

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