ClinVar Miner

List of variants in gene FAM83H studied for amelogenesis imperfecta, type 3A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198488.5(FAM83H):c.1827C>T (p.Tyr609=) rs13254035 0.81988
NM_198488.5(FAM83H):c.2884C>T (p.Leu962=) rs11136321 0.60606
NM_198488.5(FAM83H):c.1493C>T (p.Pro498Leu) rs1137806 0.11038
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys) rs312262803 0.00183
NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter) rs137854436
NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter) rs137854437
NM_198488.5(FAM83H):c.1309_1311delinsTAA (p.His437Ter) rs2129674608
NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter) rs1818377152
NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter) rs2129674125
NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter) rs387907056
NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter) rs137854439
NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter) rs137854441
NM_198488.5(FAM83H):c.1466del (p.Phe489fs)
NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)
NM_198488.5(FAM83H):c.1828G>T (p.Glu610Ter) rs1554622736
NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs) rs796065022
NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter) rs2129668758
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter) rs137854443
NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter) rs137854442
NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter) rs137854438
NM_198488.5(FAM83H):c.923_924del (p.Leu308fs) rs796065023
NM_198488.5(FAM83H):c.926_927del (p.Val309fs) rs1554623490
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435

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.