List of variants in gene TWIST1 studied for Sweeney-Cox syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)	rs878852992	0.00102
NM_000474.4(TWIST1):c.152G>A (p.Gly51Glu)	rs1305059157
NM_000474.4(TWIST1):c.161G>T (p.Gly54Val)	rs1788590971
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del)	rs544465774
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)	rs760471055
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly)	rs1554442016
NM_000474.4(TWIST1):c.350A>T (p.Glu117Val)	rs1554442016
NM_000474.4(TWIST1):c.351G>T (p.Glu117Asp)
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)	rs1233220987
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)	rs748476974

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