ClinVar Miner

List of variants in gene TCOF1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
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.1730C>T (p.Ala577Val) rs201843484
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
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.2425C>T (p.Gln809Ter) rs786205575
NM_000356.4(TCOF1):c.2444_2447delinsGCTGCCTTGGCT (p.Lys815fs) rs1064796835
NM_000356.4(TCOF1):c.2496A>G (p.Lys832=)
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2800C>T (p.Gln934Ter) rs1554077988
NM_000356.4(TCOF1):c.3370-14A>G
NM_000356.4(TCOF1):c.3386A>G (p.Tyr1129Cys) rs146226591
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.4092_4094GAA[2] (p.Lys1367del) rs574569798
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.4184C>T (p.Pro1395Leu)
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.635_636del (p.Val212fs) rs1554133681
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.731G>A (p.Gly244Glu) rs1554135341
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.803A>G (p.Glu268Gly) rs150637771
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915

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.