ClinVar Miner

List of variants in gene TWIST1 studied for bone development disease

Included ClinVar conditions (588):
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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
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_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_000474.4(TWIST1):c.152G>T (p.Gly51Val) rs1305059157 0.00006
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.70C>G (p.Pro24Ala) rs559821440 0.00001
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
NC_000007.13:g.(?_19156336)_(19157207_?)del
NM_000474.4(TWIST1):c.-18C>T
NM_000474.4(TWIST1):c.102del (p.Gly36fs)
NM_000474.4(TWIST1):c.110G>A (p.Arg37His)
NM_000474.4(TWIST1):c.124del (p.Ser42fs)
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.151G>A (p.Gly51Arg)
NM_000474.4(TWIST1):c.156_165dup (p.Ala56fs)
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val) rs1788590971
NM_000474.4(TWIST1):c.171del (p.Gly59fs) rs1788590614
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.200G>C (p.Gly67Ala)
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.306_307del (p.Tyr103fs) rs1585617240
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) rs757253926
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
NM_000474.4(TWIST1):c.321dup (p.Thr108fs) rs1788583845
NM_000474.4(TWIST1):c.325C>G (p.Gln109Glu)
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)
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.346C>T (p.Arg116Trp)
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.352C>A (p.Arg118Ser) rs1554442015
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
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.365A>G (p.Gln122Arg) rs2115396737
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.379G>A (p.Ala127Thr) rs1585617064
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.392T>C (p.Leu131Pro) rs121909189
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.397A>T (p.Lys133Ter) rs1585617015
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile) rs1585617012
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.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.407C>T (p.Pro136Leu)
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
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.51G>C (p.Leu17=)
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) rs2115397248
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)

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