ClinVar Miner

List of variants reported as pathogenic for FGFR3-related chondrodysplasia by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000142.4(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1612A>G (p.Ile538Val) rs80053154
NM_000142.4(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000142.4(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1637C>A (p.Thr546Lys) rs587777857
NM_000142.4(FGFR3):c.1862G>A (p.Arg621His) rs121913113
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.4(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.4(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.4(FGFR3):c.[1130T>G;1138G>A]
NM_000142.4(FGFR3):c.[1454A>G;1620C>A]
NM_001163213.1(FGFR3):c.1129G>T (p.Gly377Cys) rs75790268

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.