ClinVar Miner

List of variants in gene TWIST1 reported as likely pathogenic for acrocephalosyndactyly

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.171del (p.Gly59fs) rs1788590614
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
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.358C>G (p.Arg120Gly) rs1233220987
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg) rs2115396737
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
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

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