ClinVar Miner

List of variants in gene TCOF1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 21
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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 0.17773
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17396
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09176
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08455
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01744
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01117
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.1281G>A (p.Ala427=) rs113299143 0.00291
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.1864G>A (p.Glu622Lys) rs144872197 0.00054
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582

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