ClinVar Miner

List of variants in gene TWIST1 reported as benign for acrocephalosyndactyly

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055

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