ClinVar Miner

List of variants in gene TCOF1 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser) rs142477153 0.00019
NM_001371623.1(TCOF1):c.1681C>G (p.Pro561Ala) rs144197515 0.00018
NM_001371623.1(TCOF1):c.3349G>A (p.Val1117Ile) rs757151167 0.00016
NM_001371623.1(TCOF1):c.911C>T (p.Ser304Leu) rs144193760 0.00015
NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln) rs371609378 0.00014
NM_001371623.1(TCOF1):c.230G>A (p.Arg77His) rs145365677 0.00014
NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu) rs376431510 0.00014
NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu) rs140440910 0.00014
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) rs541861585 0.00014
NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys) rs200561413 0.00012
NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe) rs112227999 0.00010
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_001371623.1(TCOF1):c.766G>A (p.Ala256Thr) rs753898877 0.00006
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu) rs779174758 0.00005
NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp) rs367964727 0.00004
NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys) rs746560886 0.00004
NM_001371623.1(TCOF1):c.737G>A (p.Gly246Glu) rs752816706 0.00004
NM_001371623.1(TCOF1):c.1629G>C (p.Glu543Asp) rs138254692 0.00003
NM_001371623.1(TCOF1):c.1379G>T (p.Gly460Val) rs369804013 0.00002
NM_001371623.1(TCOF1):c.1651G>A (p.Glu551Lys) rs768127692 0.00002
NM_001371623.1(TCOF1):c.1973C>G (p.Pro658Arg) rs200287975 0.00002
NM_001371623.1(TCOF1):c.2093A>T (p.Glu698Val) rs760265000 0.00002
NM_001371623.1(TCOF1):c.2905G>A (p.Ala969Thr) rs187522917 0.00002
NM_001371623.1(TCOF1):c.457T>C (p.Ser153Pro) rs1161730410 0.00002
NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu) rs762339373 0.00001
NM_001371623.1(TCOF1):c.2458A>G (p.Lys820Glu) rs773887777 0.00001
NM_001371623.1(TCOF1):c.2618A>T (p.Glu873Val) rs1169974134 0.00001
NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met) rs368011460 0.00001
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val) rs754773014 0.00001
NM_001371623.1(TCOF1):c.378+3G>A rs779373224 0.00001
NM_001371623.1(TCOF1):c.3857A>G (p.Gln1286Arg) rs762322529 0.00001
NM_001371623.1(TCOF1):c.3886A>G (p.Ile1296Val) rs1297478685 0.00001
NM_001371623.1(TCOF1):c.449A>G (p.Asn150Ser) rs141805606 0.00001
NC_000005.10:g.150374956_150374973del
NM_001371623.1(TCOF1):c.1029_1046del (p.Ser346_Glu351del) rs1763213917
NM_001371623.1(TCOF1):c.1073C>A (p.Ala358Asp)
NM_001371623.1(TCOF1):c.108G>A (p.Gln36=)
NM_001371623.1(TCOF1):c.109-8C>G
NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)
NM_001371623.1(TCOF1):c.1114G>A (p.Gly372Arg)
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu) rs1759991869
NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val) rs773162787
NM_001371623.1(TCOF1):c.1250C>T (p.Ser417Leu)
NM_001371623.1(TCOF1):c.130G>A (p.Val44Ile)
NM_001371623.1(TCOF1):c.134C>T (p.Thr45Ile) rs1188694708
NM_001371623.1(TCOF1):c.1363C>T (p.Pro455Ser)
NM_001371623.1(TCOF1):c.1413GGA[2] (p.Glu473del) rs776561920
NM_001371623.1(TCOF1):c.1419G>C (p.Glu473Asp) rs2150707423
NM_001371623.1(TCOF1):c.1516G>C (p.Val506Leu) rs769055076
NM_001371623.1(TCOF1):c.1522C>T (p.Pro508Ser) rs1340850886
NM_001371623.1(TCOF1):c.1538G>T (p.Gly513Val)
NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala)
NM_001371623.1(TCOF1):c.1614G>A (p.Val538=)
NM_001371623.1(TCOF1):c.161A>C (p.Gln54Pro) rs2150399443
NM_001371623.1(TCOF1):c.1623GGA[2] (p.Glu543del) rs1159384975
NM_001371623.1(TCOF1):c.1636G>A (p.Glu546Lys)
NM_001371623.1(TCOF1):c.1741A>C (p.Thr581Pro)
NM_001371623.1(TCOF1):c.1748G>A (p.Ser583Asn)
NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp)
NM_001371623.1(TCOF1):c.1823C>T (p.Ser608Leu)
NM_001371623.1(TCOF1):c.1844CGGACAGTG[3] (p.Ser620_Glu621insAlaAspSer)
NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val)
NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser) rs2071240
NM_001371623.1(TCOF1):c.1997C>A (p.Pro666His)
NM_001371623.1(TCOF1):c.1999C>T (p.Arg667Trp)
NM_001371623.1(TCOF1):c.2014G>T (p.Ala672Ser) rs1487072659
NM_001371623.1(TCOF1):c.2018C>A (p.Thr673Asn)
NM_001371623.1(TCOF1):c.2258A>G (p.Gln753Arg)
NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys)
NM_001371623.1(TCOF1):c.2314G>A (p.Glu772Lys)
NM_001371623.1(TCOF1):c.2348C>A (p.Thr783Asn)
NM_001371623.1(TCOF1):c.2353G>A (p.Val785Ile)
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn) rs1764401679
NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)
NM_001371623.1(TCOF1):c.2416A>C (p.Ile806Leu)
NM_001371623.1(TCOF1):c.2489C>G (p.Pro830Arg)
NM_001371623.1(TCOF1):c.2539G>T (p.Val847Leu)
NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met)
NM_001371623.1(TCOF1):c.2588G>A (p.Gly863Glu)
NM_001371623.1(TCOF1):c.2623_2640del (p.Ser875_Glu880del)
NM_001371623.1(TCOF1):c.2630G>A (p.Ser877Asn)
NM_001371623.1(TCOF1):c.2658+13G>T
NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)
NM_001371623.1(TCOF1):c.2807G>A (p.Ser936Asn)
NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)
NM_001371623.1(TCOF1):c.2897G>A (p.Arg966His)
NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile)
NM_001371623.1(TCOF1):c.3003C>G (p.Ser1001Arg)
NM_001371623.1(TCOF1):c.3043C>A (p.Pro1015Thr)
NM_001371623.1(TCOF1):c.307C>G (p.Pro103Ala)
NM_001371623.1(TCOF1):c.3085C>T (p.Pro1029Ser)
NM_001371623.1(TCOF1):c.3215T>A (p.Leu1072Gln) rs2151031405
NM_001371623.1(TCOF1):c.3253A>G (p.Ser1085Gly) rs2151031928
NM_001371623.1(TCOF1):c.3297+10G>A
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn) rs1193457959
NM_001371623.1(TCOF1):c.3368A>G (p.Asn1123Ser) rs2151037169
NM_001371623.1(TCOF1):c.3397G>A (p.Val1133Ile)
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)
NM_001371623.1(TCOF1):c.347A>T (p.Asp116Val)
NM_001371623.1(TCOF1):c.3505G>T (p.Ala1169Ser)
NM_001371623.1(TCOF1):c.3518-4C>G rs2151048297
NM_001371623.1(TCOF1):c.3530C>A (p.Pro1177His)
NM_001371623.1(TCOF1):c.3587TGG[1] (p.Val1197del) rs748108935
NM_001371623.1(TCOF1):c.3614C>T (p.Ser1205Leu)
NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro)
NM_001371623.1(TCOF1):c.3689C>T (p.Pro1230Leu) rs768747268
NM_001371623.1(TCOF1):c.3785-14T>G
NM_001371623.1(TCOF1):c.3872C>T (p.Ala1291Val)
NM_001371623.1(TCOF1):c.3880A>C (p.Ser1294Arg)
NM_001371623.1(TCOF1):c.3914G>T (p.Trp1305Leu)
NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys)
NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln)
NM_001371623.1(TCOF1):c.4036C>T (p.Arg1346Cys)
NM_001371623.1(TCOF1):c.4040A>G (p.Lys1347Arg)
NM_001371623.1(TCOF1):c.4052C>T (p.Ser1351Leu)
NM_001371623.1(TCOF1):c.4120G>T (p.Gly1374Trp)
NM_001371623.1(TCOF1):c.4171G>A (p.Ala1391Thr)
NM_001371623.1(TCOF1):c.4186G>T (p.Ala1396Ser)
NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln)
NM_001371623.1(TCOF1):c.4318A>G (p.Lys1440Glu) rs2151107757
NM_001371623.1(TCOF1):c.434G>A (p.Gly145Glu)
NM_001371623.1(TCOF1):c.4361A>C (p.Glu1454Ala) rs1561543582
NM_001371623.1(TCOF1):c.4361A>G (p.Glu1454Gly) rs1561543582
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4378A>G (p.Lys1460Glu)
NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro) rs146405751
NM_001371623.1(TCOF1):c.440C>T (p.Thr147Met)
NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del)
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser) rs370631849
NM_001371623.1(TCOF1):c.521AGG[2] (p.Glu176del) rs767850463
NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del) rs1762083909
NM_001371623.1(TCOF1):c.791A>G (p.Lys264Arg)
NM_001371623.1(TCOF1):c.814A>G (p.Ser272Gly) rs577953324
NM_001371623.1(TCOF1):c.827_844dup (p.Glu281_Glu282insGlySerGluSerGluGlu)
NM_001371623.1(TCOF1):c.835A>G (p.Ser279Gly) rs1562326677
NM_001371623.1(TCOF1):c.863G>A (p.Arg288Gln)
NM_001371623.1(TCOF1):c.871-15T>C
NM_001371623.1(TCOF1):c.931C>T (p.Pro311Ser)
NM_001371623.1(TCOF1):c.973_999del (p.Ala325_Gly333del) rs1562337018
NM_001371623.1(TCOF1):c.983C>G (p.Ser328Cys) rs1467499141
NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu)

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