ClinVar Miner

List of variants in gene TCOF1 reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.802G>T (p.Glu268Ter) rs377241141 0.00001
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
NM_001371623.1(TCOF1):c.1448_1451del (p.Asp483fs) rs1064794474
NM_001371623.1(TCOF1):c.4303_4307del (p.Ser1435fs) rs1581226008
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs) rs2151108281
NM_001371623.1(TCOF1):c.4353dup (p.Asp1452fs) rs1266047546
NM_001371623.1(TCOF1):c.4358_4359del (p.Lys1453fs) rs1554081108
NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter) rs748805008

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