ClinVar Miner

Variants in gene TCOF1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 47
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) rs141250614 0.00132
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) rs143519179 0.00129
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690 0.00051
NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser) rs557426457 0.00041
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293 0.00032
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu) rs138645438 0.00028
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177 0.00026
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg) rs149117118 0.00025
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg) rs141095369 0.00018
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.3518-3C>T rs543072968 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827

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