ClinVar Miner

List of variants in gene TCOF1 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 16
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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.2762C>T (p.Pro921Leu) rs150515843 0.00548
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.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg) rs140334121 0.00149
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.503C>T (p.Thr168Met) rs181203524 0.00053
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_001371623.1(TCOF1):c.2727A>G (p.Lys909=) rs779040869 0.00001
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827

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