List of variants in gene TWIST1 studied for Robinow-Sorauf 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: 5

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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.316C>G (p.Leu106Val)	rs1230428800	0.00001
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)	rs104894065
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)	rs760471055
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)	rs2486049961

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