ClinVar Miner

List of variants in gene EGFL6 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015507.4(EGFL6):c.1124G>A (p.Gly375Asp) rs200583207 0.00018
NM_015507.4(EGFL6):c.674T>C (p.Met225Thr) rs755083555 0.00009
NM_015507.4(EGFL6):c.1132G>A (p.Gly378Ser) rs200143589 0.00005
NM_015507.4(EGFL6):c.1277G>A (p.Arg426Gln) rs375448294 0.00005
NM_015507.4(EGFL6):c.1343G>A (p.Arg448Gln) rs757918292 0.00005
NM_015507.4(EGFL6):c.487C>T (p.Leu163Phe) rs150698405 0.00005
NM_015507.4(EGFL6):c.262G>A (p.Gly88Arg) rs755271089 0.00004
NM_015507.4(EGFL6):c.1034A>G (p.Asp345Gly) rs1382377142 0.00002
NM_015507.4(EGFL6):c.1414G>A (p.Gly472Arg) rs1377251200 0.00002
NM_015507.4(EGFL6):c.143C>T (p.Ala48Val) rs2518523185 0.00002
NM_015507.4(EGFL6):c.232A>G (p.Asn78Asp) rs775266200 0.00002
NM_015507.4(EGFL6):c.441T>G (p.Cys147Trp) rs911228165 0.00002
NM_015507.4(EGFL6):c.337C>T (p.His113Tyr) rs200833892 0.00001
NM_015507.4(EGFL6):c.431A>G (p.Gln144Arg) rs751347794 0.00001
NM_015507.4(EGFL6):c.773G>A (p.Cys258Tyr) rs760386505 0.00001
NM_015507.4(EGFL6):c.86A>G (p.His29Arg) rs2045551853 0.00001
NM_015507.4(EGFL6):c.1033G>T (p.Asp345Tyr) rs747763729
NM_015507.4(EGFL6):c.115G>T (p.Gly39Trp)
NM_015507.4(EGFL6):c.116G>C (p.Gly39Ala)
NM_015507.4(EGFL6):c.1216C>T (p.His406Tyr)
NM_015507.4(EGFL6):c.134C>T (p.Thr45Ile) rs2518523160
NM_015507.4(EGFL6):c.1350A>C (p.Lys450Asn)
NM_015507.4(EGFL6):c.136A>G (p.Lys46Glu)
NM_015507.4(EGFL6):c.1436G>C (p.Arg479Pro) rs148690469
NM_015507.4(EGFL6):c.1472G>C (p.Trp491Ser) rs1156900443
NM_015507.4(EGFL6):c.1495G>A (p.Glu499Lys)
NM_015507.4(EGFL6):c.1537G>A (p.Asp513Asn) rs755938405
NM_015507.4(EGFL6):c.1570C>T (p.Arg524Cys)
NM_015507.4(EGFL6):c.1588G>A (p.Gly530Ser)
NM_015507.4(EGFL6):c.1591G>A (p.Glu531Lys)
NM_015507.4(EGFL6):c.298A>C (p.Met100Leu) rs2045622550
NM_015507.4(EGFL6):c.359G>C (p.Cys120Ser)
NM_015507.4(EGFL6):c.385G>A (p.Asp129Asn)
NM_015507.4(EGFL6):c.440G>A (p.Cys147Tyr)
NM_015507.4(EGFL6):c.502A>G (p.Asn168Asp)
NM_015507.4(EGFL6):c.524T>C (p.Ile175Thr) rs758526462
NM_015507.4(EGFL6):c.563A>G (p.Asn188Ser)
NM_015507.4(EGFL6):c.566G>A (p.Arg189Gln)
NM_015507.4(EGFL6):c.619G>A (p.Glu207Lys)
NM_015507.4(EGFL6):c.629A>G (p.Tyr210Cys)
NM_015507.4(EGFL6):c.635G>A (p.Ser212Asn)
NM_015507.4(EGFL6):c.653T>C (p.Ile218Thr)
NM_015507.4(EGFL6):c.719A>G (p.Gln240Arg)
NM_015507.4(EGFL6):c.803A>G (p.Glu268Gly) rs2518543089
NM_015507.4(EGFL6):c.872A>G (p.Lys291Arg) rs2518543203
NM_015507.4(EGFL6):c.928A>G (p.Lys310Glu)

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.