List of variants reported as pathogenic for craniosynostosis 4

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)	rs1064794325
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter)	rs587777010
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	rs587777009
NM_006494.4(ERF):c.1A>G (p.Met1Val)	rs864321681
NM_006494.4(ERF):c.22+2T>G	rs2146960176
NM_006494.4(ERF):c.23-2A>G	rs864321680
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	rs587777008
NM_006494.4(ERF):c.547C>T (p.Arg183Ter)	rs587777006
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)	rs1555750816
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007

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