ClinVar Miner

List of variants in gene TWIST1 reported as pathogenic for acrocephalosyndactyly

Included ClinVar conditions (13):
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Gene type:
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Total variants: 24
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HGVS dbSNP
NC_000007.14:g.(?_19116693)_(19117341_?)del
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
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.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.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.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
TWIST1, 21-BP DUP

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