List of variants in gene ERF reported as uncertain significance for craniosynostosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_006494.4(ERF):c.1222G>A (p.Gly408Arg)	rs764764288	0.00003
NM_006494.4(ERF):c.1478G>A (p.Arg493His)	rs762382429	0.00003
NM_006494.4(ERF):c.1201A>G (p.Lys401Glu)	rs753010203	0.00002
NM_006494.4(ERF):c.208C>T (p.Arg70Cys)	rs756869919	0.00002
NM_006494.4(ERF):c.830A>G (p.Tyr277Cys)	rs753014847	0.00002
NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)	rs749808726	0.00001
NM_006494.4(ERF):c.373+8C>T	rs368794183	0.00001
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly)	rs1395870549
NM_006494.4(ERF):c.1243_1245del (p.Ala415del)	rs759202471
NM_006494.4(ERF):c.1372C>G (p.Arg458Gly)	rs766642440
NM_006494.4(ERF):c.1372C>T (p.Arg458Cys)
NM_006494.4(ERF):c.1500del (p.Ala501fs)
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	rs587777009
NM_006494.4(ERF):c.199T>G (p.Trp67Gly)	rs141468833
NM_006494.4(ERF):c.226A>G (p.Met76Val)
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)	rs587777008
NM_006494.4(ERF):c.257G>A (p.Arg86His)	rs765295141
NM_006494.4(ERF):c.281T>C (p.Leu94Pro)
NM_006494.4(ERF):c.355A>C (p.Ile119Leu)
NM_006494.4(ERF):c.383T>G (p.Val128Gly)	rs781452659
NM_006494.4(ERF):c.398C>T (p.Pro133Leu)	rs2036411561
NM_006494.4(ERF):c.40T>G (p.Trp14Gly)
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)	rs767011693
NM_006494.4(ERF):c.748G>C (p.Val250Leu)	rs2036399893
NM_006494.4(ERF):c.810G>A (p.Met270Ile)
NM_006494.4(ERF):c.911_913del (p.Ser304del)	rs2146949300

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