ClinVar Miner

List of variants in gene TCOF1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 89
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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.4295G>C (p.Gly1432Ala) rs45491898 0.01804
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.4007A>G (p.Lys1336Arg) rs55980697 0.00865
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.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046 0.00135
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.1590G>A (p.Gly530=) rs145539529 0.00071
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys) rs144872197 0.00057
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.2248A>G (p.Thr750Ala) rs149384321 0.00039
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483 0.00034
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.188G>A (p.Arg63Gln) rs371609378 0.00014
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344 0.00012
NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val) rs375337164 0.00011
NM_001371623.1(TCOF1):c.270G>A (p.Glu90=) rs777057497 0.00008
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371623.1(TCOF1):c.633C>T (p.Asp211=) rs750978663 0.00005
NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp) rs367964727 0.00004
NM_001371623.1(TCOF1):c.1923C>T (p.Thr641=) rs781033363 0.00002
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.449A>G (p.Asn150Ser) rs141805606 0.00001
NM_001371623.1(TCOF1):c.723C>A (p.Ala241=) rs763497947 0.00001
NM_001371623.1(TCOF1):c.102_103delinsTAAGCTGCACCAC (p.Gly35fs)
NM_001371623.1(TCOF1):c.108+1G>A
NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=) rs149825269
NM_001371623.1(TCOF1):c.1152dup (p.Gly385fs)
NM_001371623.1(TCOF1):c.1353T>G (p.Ala451=)
NM_001371623.1(TCOF1):c.1413G>A (p.Gln471=)
NM_001371623.1(TCOF1):c.1468G>A (p.Ala490Thr)
NM_001371623.1(TCOF1):c.1551G>C (p.Leu517Phe)
NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser)
NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=)
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.1791C>T (p.Val597=)
NM_001371623.1(TCOF1):c.1820A>G (p.Asn607Ser) rs777672775
NM_001371623.1(TCOF1):c.1853C>T (p.Ala618Val)
NM_001371623.1(TCOF1):c.1974del (p.Val659fs)
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.207G>A (p.Ala69=)
NM_001371623.1(TCOF1):c.2306C>A (p.Ser769Ter)
NM_001371623.1(TCOF1):c.2312G>A (p.Ser771Asn)
NM_001371623.1(TCOF1):c.2659-24_2659-20del rs151182547
NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=)
NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=)
NM_001371623.1(TCOF1):c.2860-1G>A
NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=)
NM_001371623.1(TCOF1):c.3375C>T (p.Leu1125=)
NM_001371623.1(TCOF1):c.3442G>A (p.Asp1148Asn)
NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=)
NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=)
NM_001371623.1(TCOF1):c.381A>G (p.Ala127=)
NM_001371623.1(TCOF1):c.3873G>A (p.Ala1291=)
NM_001371623.1(TCOF1):c.3953A>G (p.Lys1318Arg)
NM_001371623.1(TCOF1):c.4043G>A (p.Arg1348Gln) rs1464731247
NM_001371623.1(TCOF1):c.4052C>T (p.Ser1351Leu)
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4293T>C (p.Gly1431=)
NM_001371623.1(TCOF1):c.431C>T (p.Thr144Ile)
NM_001371623.1(TCOF1):c.566-10C>T
NM_001371623.1(TCOF1):c.714G>A (p.Ala238=)
NM_001371623.1(TCOF1):c.771G>A (p.Leu257=)
NM_001371623.1(TCOF1):c.802G>A (p.Glu268Lys)
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371623.1(TCOF1):c.930C>G (p.Thr310=)

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