ClinVar Miner

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

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Gene type:
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Total variants: 6
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NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.4119dup (p.Asp1374fs) rs1266047546
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-2006G>T rs377241141

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