ClinVar Miner

List of variants in gene TCOF1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 5q32(chr5:150368321-150396843)x3
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1257+5G>A rs1554136339
NM_000356.4(TCOF1):c.1462G>T (p.Ala488Ser) rs746889823
NM_000356.4(TCOF1):c.1692_1693dup (p.Lys565fs) rs1554137113
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.1909C>T (p.Gln637Ter) rs769931291
NM_000356.4(TCOF1):c.2055_2056del (p.Ser687fs) rs886041672
NM_000356.4(TCOF1):c.2444_2447delinsGCTGCCTTGGCT (p.Lys815fs) rs1064796835
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2800C>T (p.Gln934Ter) rs1554077988
NM_000356.4(TCOF1):c.3370-14A>G
NM_000356.4(TCOF1):c.3523_3526del (p.Ala1175fs) rs1057517834
NM_000356.4(TCOF1):c.3729_3730del (p.Glu1244fs) rs1064796606
NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) rs1554080460
NM_000356.4(TCOF1):c.3803G>T (p.Arg1268Leu) rs979889720
NM_000356.4(TCOF1):c.3898_3899del (p.Val1300fs) rs1554080589
NM_000356.4(TCOF1):c.4119dup (p.Asp1374fs) rs1266047546
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4133_4134del (p.Lys1378fs) rs587776585
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.640-2006G>T rs377241141
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211

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.