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Gene: ZNF143 & Disease: Disorders of Intracellular Cobalamin Metabolism, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2136308	ZNF143	c.851T>G	p.Leu284Ter (p.L284X)	NM_003442.6 M	SNV	VUS	1 +	2
2136309	ZNF143	c.1019C>T	p.Thr340Ile (p.T340I)	NM_003442.6 M	SNV	VUS	1 +	2
2136308	ZNF143	c.848T>G	p.Leu283Ter (p.L283X)	NM_001282656.2	SNV	VUS	1 +	2
2136308	ZNF143	c.758T>G	p.Leu253Ter (p.L253X)	NM_001282657.2	SNV	VUS	1 +	2
2136309	ZNF143	c.1016C>T	p.Thr339Ile (p.T339I)	NM_001282656.2	SNV	VUS	1 +	2
2136309	ZNF143	c.926C>T	p.Thr309Ile (p.T309I)	NM_001282657.2	SNV	VUS	1 +	2

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