List of variants in gene ERF studied for Craniosynostosis 4; Chitayat 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu)	rs533363033	0.00040
NM_006494.4(ERF):c.373+8C>T	rs368794183	0.00002
NM_006494.4(ERF):c.398C>T (p.Pro133Leu)	rs2036411561
NM_006494.4(ERF):c.538C>T (p.Arg180Cys)	rs770334700
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)	rs587777006
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter)	rs1216061173

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