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Gene: NR1H4 & Disease: PFIC1, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
219164	NR1H4	c.526C>T	p.Arg176Ter (p.R176X)	NM_001206979.2 M	SNV	P	2 +	3
	NR1H4	c.526C>T	p.Arg176Ter (p.R176X)	NM_001206977.2	SNV	P	2 +	3
	NR1H4	c.556C>T	p.Arg186Ter (p.R186X)	NM_001206992.2	SNV	P	2 +	3
	NR1H4	c.556C>T	p.Arg186Ter (p.R186X)	NM_001206993.2	SNV	P	2 +	3
	NR1H4	c.526C>T	p.Arg176Ter (p.R176X)	NM_005123.4	SNV	P	2 +	3
	NR1H4	c.446-2352C>T	--	NM_001206978.2	SNV	P	2 +	3
219162	NR1H4	c.419_420insAAA	p.Tyr139_Asn140insLys	NM_001206979.2 M	Ins	P	2 +	1
	NR1H4	c.419_420insAAA	p.Tyr139_Asn140insLys	NM_001206977.2	Ins	P	2 +	1
	NR1H4	c.419_420insAAA	p.Tyr139_Asn140insLys	NM_001206978.2	Ins	P	2 +	1
	NR1H4	c.449_450insAAA	p.Tyr149_Asn150insLys	NM_001206992.2	Ins	P	2 +	1
	NR1H4	c.449_450insAAA	p.Tyr149_Asn150insLys	NM_001206993.2	Ins	P	2 +	1
	NR1H4	c.419_420insAAA	p.Tyr139_Asn140insLys	NM_005123.4	Ins	P	2 +	1

12 Results, 20 per Page

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