List of variants in gene combination LOC129998021, TWIST1 reported as uncertain significance for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.421G>A (p.Asp141Asn)
NM_000474.4(TWIST1):c.423C>G (p.Asp141Glu)
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr)	rs1788580225
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser)	rs1788580225
NM_000474.4(TWIST1):c.451C>G (p.Leu151Val)	rs2115396601
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)	rs1554441982
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)	rs1585616825
NM_000474.4(TWIST1):c.484del (p.Val162fs)	rs1788579060
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)	rs867957820
NM_000474.4(TWIST1):c.488T>C (p.Leu163Pro)
NM_000474.4(TWIST1):c.508T>A (p.Ser170Thr)
NM_000474.4(TWIST1):c.510dup (p.Lys171fs)	rs2115396517
NM_000474.4(TWIST1):c.518del (p.Ala173fs)	rs2115396502
NM_000474.4(TWIST1):c.530_537dup (p.His180fs)	rs2115396467
NM_000474.4(TWIST1):c.540_550del (p.His180fs)
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)	rs1554441944
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	rs121909191
NM_000474.4(TWIST1):c.565G>A (p.Val189Ile)

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