ClinVar Miner

List of variants in gene TWIST1 studied for Saethre-Chotzen syndrome

Included ClinVar conditions (4):
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Total variants: 40
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HGVS dbSNP
NC_000007.13:g.(?_19156316)_(19156964_?)del
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
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.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
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.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
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.400_420dup (p.Ile134_Ser140dup)
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992
TWIST1, 21-BP DUP

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