List of variants in gene TWIST2 studied for ectodermal dysplasia 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)	rs387906973	0.00002
NM_001271893.4(TWIST2):c.168del (p.Ser57fs)	rs1574742341
NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter)	rs387906974
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala)	rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup)	rs869320750

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