ClinVar Miner

List of variants in gene ERF reported as pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NC_000019.9:g.(?_42759120)_42759196del
NM_006494.4(ERF):c.-44_22+11del rs1568475667
NM_006494.4(ERF):c.1021del (p.Gln341fs)
NM_006494.4(ERF):c.1072_1073del (p.Pro358fs) rs1064796715
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.144G>A (p.Trp48Ter) rs2036425705
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.223C>T (p.Gln75Ter) rs1568472771
NM_006494.4(ERF):c.23-2A>G rs864321680
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.272dup (p.Arg92fs)
NM_006494.4(ERF):c.427del (p.Arg143fs) rs2036410199
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.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.71C>G (p.Ser24Ter) rs2146952114
NM_006494.4(ERF):c.733del (p.Leu245fs) rs1555750741
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006494.4(ERF):c.997_1034del (p.Leu332_His333insTer)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.