ClinVar Miner

List of variants in gene TCOF1 reported by Athena Diagnostics Inc

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg) rs55980697 0.00865
NM_001371623.1(TCOF1):c.3510C>T (p.His1170=) rs116354094 0.00617
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012 0.00049
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) rs541861585 0.00014
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827

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