ClinVar Miner

List of variants in gene TCOF1 reported by Illumina Clinical Services Laboratory,Illumina

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Total variants: 77
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HGVS dbSNP
NM_000356.4(TCOF1):c.*141T>G rs183916761
NM_000356.4(TCOF1):c.*151C>T rs886060265
NM_000356.4(TCOF1):c.*1C>T rs75420644
NM_000356.4(TCOF1):c.*233C>T rs886060266
NM_000356.4(TCOF1):c.*241A>G rs146760417
NM_000356.4(TCOF1):c.-19C>T rs761394443
NM_000356.4(TCOF1):c.-26T>A rs199754848
NM_000356.4(TCOF1):c.-39C>T rs771909633
NM_000356.4(TCOF1):c.1047+14G>A rs375809363
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1069C>T (p.Pro357Ser) rs143519179
NM_000356.4(TCOF1):c.109-13T>C rs147327313
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1275A>G (p.Lys425=) rs570537135
NM_000356.4(TCOF1):c.1316C>T (p.Pro439Leu) rs138645438
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000356.4(TCOF1):c.1398G>C (p.Glu466Asp) rs138254692
NM_000356.4(TCOF1):c.1440T>C (p.Asp480=) rs142758482
NM_000356.4(TCOF1):c.1477A>G (p.Lys493Glu) rs762339373
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1558G>A (p.Val520Ile) rs147742838
NM_000356.4(TCOF1):c.1589A>G (p.Asn530Ser) rs777672775
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.1912-5C>T rs781214207
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.23-10C>T rs55984000
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2485T>A (p.Ser829Thr) rs752302098
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2586A>T (p.Ser862=) rs772987244
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2692C>G (p.Pro898Ala) rs374457446
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2739G>C (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2759C>G (p.Ser920Cys) rs886060261
NM_000356.4(TCOF1):c.289G>A (p.Glu97Lys) rs200561413
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
NM_000356.4(TCOF1):c.3014A>G (p.Gln1005Arg) rs773138164
NM_000356.4(TCOF1):c.3054G>A (p.Gln1018=) rs886060262
NM_000356.4(TCOF1):c.3195C>T (p.Ser1065=) rs138291748
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3386A>G (p.Tyr1129Cys) rs146226591
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
NM_000356.4(TCOF1):c.3394C>T (p.Pro1132Ser) rs558530968
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3551-13TC[2] rs886060263
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.3810G>A (p.Arg1270=) rs771291811
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.4050G>T (p.Thr1350=) rs148889187
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4092_4094GAA[2] (p.Lys1367del) rs574569798
NM_000356.4(TCOF1):c.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.534C>T (p.Ser178=) rs141250614
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.634G>A (p.Val212Met) rs200204590
NM_000356.4(TCOF1):c.640-2034C>G rs779932567
NM_000356.4(TCOF1):c.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.852+12G>A rs571858502
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.897C>A (p.Ala299=) rs149825269
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_001135243.1(TCOF1):c.-106A>C rs3806951
NM_001135243.1(TCOF1):c.-59G>A rs151344563
NM_001135243.1(TCOF1):c.-89T>G rs4565199

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