ClinVar Miner

List of variants in gene TCOF1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_001371623.1(TCOF1):c.1681C>G (p.Pro561Ala) rs144197515 0.00018
NM_001371623.1(TCOF1):c.701C>G (p.Pro234Arg) rs200344000 0.00015
NM_001371623.1(TCOF1):c.911C>T (p.Ser304Leu) rs144193760 0.00015
NM_001371623.1(TCOF1):c.230G>A (p.Arg77His) rs145365677 0.00014
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) rs541861585 0.00014
NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val) rs375337164 0.00011
NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe) rs112227999 0.00010
NM_001371623.1(TCOF1):c.1567C>G (p.Pro523Ala) rs769895138 0.00009
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro) rs201919311 0.00005
NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys) rs746560886 0.00004
NM_001371623.1(TCOF1):c.3131A>G (p.Lys1044Arg) rs373231270 0.00004
NM_001371623.1(TCOF1):c.737G>A (p.Gly246Glu) rs752816706 0.00004
NM_001371623.1(TCOF1):c.1003C>T (p.Pro335Ser) rs1471334737 0.00002
NM_001371623.1(TCOF1):c.1418A>T (p.Glu473Val) rs769387785 0.00002
NM_001371623.1(TCOF1):c.1491G>A (p.Val497=) rs1473015759 0.00002
NM_001371623.1(TCOF1):c.1901C>T (p.Pro634Leu) rs758149660 0.00002
NM_001371623.1(TCOF1):c.1973C>G (p.Pro658Arg) rs200287975 0.00002
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195 0.00002
NM_001371623.1(TCOF1):c.1066G>A (p.Ala356Thr) rs757871989 0.00001
NM_001371623.1(TCOF1):c.1228T>C (p.Ser410Pro) rs749270349 0.00001
NM_001371623.1(TCOF1):c.1273G>A (p.Ala425Thr) rs368518859 0.00001
NM_001371623.1(TCOF1):c.1693G>T (p.Ala565Ser) rs746889823 0.00001
NM_001371623.1(TCOF1):c.2024C>T (p.Pro675Leu) rs917891985 0.00001
NM_001371623.1(TCOF1):c.2027C>G (p.Ala676Gly) rs940019706 0.00001
NM_001371623.1(TCOF1):c.252C>T (p.Thr84=) rs772865214 0.00001
NM_001371623.1(TCOF1):c.2727A>G (p.Lys909=) rs779040869 0.00001
NM_001371623.1(TCOF1):c.3563C>A (p.Ala1188Glu) rs760751494 0.00001
NM_001371623.1(TCOF1):c.3905G>A (p.Gly1302Asp) rs1405165413 0.00001
NM_001135243.2(TCOF1):c.517A>G (p.Thr173Ala) rs2150556734
NM_001135243.2(TCOF1):c.535G>A (p.Val179Ile) rs373269393
NM_001371623.1(TCOF1):c.1189G>A (p.Ala397Thr)
NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val) rs773162787
NM_001371623.1(TCOF1):c.1276C>G (p.Gln426Glu)
NM_001371623.1(TCOF1):c.1298C>G (p.Ala433Gly) rs375265976
NM_001371623.1(TCOF1):c.1363C>T (p.Pro455Ser)
NM_001371623.1(TCOF1):c.1488+5G>A rs1554136339
NM_001371623.1(TCOF1):c.1522C>T (p.Pro508Ser) rs1340850886
NM_001371623.1(TCOF1):c.1523C>T (p.Pro508Leu)
NM_001371623.1(TCOF1):c.1538G>T (p.Gly513Val)
NM_001371623.1(TCOF1):c.1561G>A (p.Ala521Thr) rs1298957331
NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser)
NM_001371623.1(TCOF1):c.1653_1655del (p.Ser553del)
NM_001371623.1(TCOF1):c.1705-8C>A rs1281192724
NM_001371623.1(TCOF1):c.1717G>C (p.Gly573Arg)
NM_001371623.1(TCOF1):c.1867G>C (p.Ala623Pro)
NM_001371623.1(TCOF1):c.1894-6C>G
NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser) rs2071240
NM_001371623.1(TCOF1):c.2228T>C (p.Leu743Pro) rs1763841167
NM_001371623.1(TCOF1):c.2478+4A>G rs1764431877
NM_001371623.1(TCOF1):c.2556G>T (p.Lys852Asn) rs1423391395
NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met)
NM_001371623.1(TCOF1):c.2614GAG[2] (p.Glu874del)
NM_001371623.1(TCOF1):c.2633AGG[2] (p.Glu880del) rs749229511
NM_001371623.1(TCOF1):c.2747C>T (p.Pro916Leu)
NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)
NM_001371623.1(TCOF1):c.2859+1G>A rs760036030
NM_001371623.1(TCOF1):c.3070A>G (p.Met1024Val)
NM_001371623.1(TCOF1):c.3157A>C (p.Lys1053Gln)
NM_001371623.1(TCOF1):c.3170G>A (p.Gly1057Glu)
NM_001371623.1(TCOF1):c.3182A>G (p.Gln1061Arg)
NM_001371623.1(TCOF1):c.323C>T (p.Thr108Ile)
NM_001371623.1(TCOF1):c.3437G>A (p.Ser1146Asn)
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)
NM_001371623.1(TCOF1):c.3491A>G (p.Gln1164Arg) rs2151038920
NM_001371623.1(TCOF1):c.3518-1G>A rs1204442859
NM_001371623.1(TCOF1):c.3518-4C>G rs2151048297
NM_001371623.1(TCOF1):c.3664G>A (p.Ala1222Thr) rs1767830213
NM_001371623.1(TCOF1):c.3796G>A (p.Ala1266Thr)
NM_001371623.1(TCOF1):c.3985AAG[1] (p.Lys1330del) rs1768538361
NM_001371623.1(TCOF1):c.4037G>T (p.Arg1346Leu) rs979889720
NM_001371623.1(TCOF1):c.4043G>A (p.Arg1348Gln) rs1464731247
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4092G>T (p.Lys1364Asn)
NM_001371623.1(TCOF1):c.4127C>T (p.Ala1376Val)
NM_001371623.1(TCOF1):c.4371_4373del (p.Lys1461del) rs765883642
NM_001371623.1(TCOF1):c.548G>A (p.Gly183Glu)
NM_001371623.1(TCOF1):c.568A>G (p.Met190Val) rs1562313466
NM_001371623.1(TCOF1):c.646C>A (p.Pro216Thr)
NM_001371623.1(TCOF1):c.953C>T (p.Ala318Val)
NM_001371623.1(TCOF1):c.962G>A (p.Gly321Glu) rs1554135341

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