ClinVar Miner

List of variants in gene ERF studied for craniosynostosis 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 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.1049del (p.Leu350fs) rs2036390617
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.226A>G (p.Met76Val)
NM_006494.4(ERF):c.23-2A>G rs864321680
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) rs1599823350
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006494.4(ERF):c.41G>A (p.Trp14Ter) rs2036427390
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) rs2146950390
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
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173

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