ClinVar Miner

List of variants in gene FMR1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244 0.00115
NM_002024.6(FMR1):c.375T>C (p.Thr125=) rs143611778 0.00053
NM_002024.6(FMR1):c.651G>A (p.Ser217=) rs146297962 0.00037
NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) rs139029212 0.00015
NM_002024.6(FMR1):c.1655-2A>G rs782325167 0.00011
NM_002024.6(FMR1):c.1580G>A (p.Arg527His) rs782738200 0.00001
NM_002024.6(FMR1):c.1663G>A (p.Asp555Asn) rs782156891 0.00001
NM_002024.6(FMR1):c.1013T>C (p.Leu338Pro)
NM_002024.6(FMR1):c.1022A>G (p.Asn341Ser)
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002024.6(FMR1):c.1124G>T (p.Arg375Met)
NM_002024.6(FMR1):c.1189G>A (p.Gly397Ser)
NM_002024.6(FMR1):c.1223A>G (p.Asp408Gly)
NM_002024.6(FMR1):c.1576C>A (p.Leu526Met)
NM_002024.6(FMR1):c.1641A>G (p.Gly547=)
NM_002024.6(FMR1):c.1652A>G (p.Lys551Arg)
NM_002024.6(FMR1):c.1672C>A (p.Arg558=)
NM_002024.6(FMR1):c.1820C>T (p.Thr607Met)
NM_002024.6(FMR1):c.380A>G (p.His127Arg)
NM_002024.6(FMR1):c.420-11dup rs782218323
NM_002024.6(FMR1):c.434C>T (p.Ala145Val)
NM_002024.6(FMR1):c.508A>C (p.Ile170Leu)
NM_002024.6(FMR1):c.602G>C (p.Arg201Thr) rs1557178460
NM_002024.6(FMR1):c.631-3dup
NM_002024.6(FMR1):c.737A>G (p.Lys246Arg)
NM_002024.6(FMR1):c.797G>A (p.Gly266Glu) rs1569545763
NM_002024.6(FMR1):c.967G>C (p.Glu323Gln)

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.