ClinVar Miner

List of variants in gene TCOF1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
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.1783G>A (p.Val595Ile) rs75583421 0.00814
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.2859+3389G>T rs151344575 0.00196
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.1671T>C (p.Asp557=) rs142758482 0.00135
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.378+16T>C rs184898865 0.00125
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007 0.00074
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293 0.00032
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs)
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)
NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_001371623.1(TCOF1):c.1776A>C (p.Ala592=)
NM_001371623.1(TCOF1):c.2614GAG[2] (p.Glu874del)
NM_001371623.1(TCOF1):c.2859+1G>A rs760036030
NM_001371623.1(TCOF1):c.2859+6A>G
NM_001371623.1(TCOF1):c.2952G>T (p.Pro984=)
NM_001371623.1(TCOF1):c.3240C>T (p.Leu1080=)
NM_001371623.1(TCOF1):c.4254A>G (p.Pro1418=)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=)
NM_001371623.1(TCOF1):c.635_636del (p.Val212fs) rs1554133681
NM_001371623.1(TCOF1):c.646C>A (p.Pro216Thr)
NM_001371623.1(TCOF1):c.646_650del (p.Pro216fs) rs1762643909
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371623.1(TCOF1):c.953C>T (p.Ala318Val)
NM_001371623.1(TCOF1):c.962G>A (p.Gly321Glu) rs1554135341

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