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Gene: IQCB1 & Disease: SLSN5, 346 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1830	IQCB1	c.1381C>T	p.Arg461Ter (p.R461X)	NM_001023570.4 M	SNV	P	5 +	14
	IQCB1	c.982C>T	p.Arg328Ter (p.R328X)	NM_001023571.4	SNV	P	5 +	14
	IQCB1	c.1381C>T	p.Arg461Ter (p.R461X)	NM_001319107.2	SNV	P	5 +	14
30778	IQCB1	c.1465C>T	p.Arg489Ter (p.R489X)	NM_001023570.4 M	SNV	P	4 +	10
	IQCB1	c.1465C>T	p.Arg489Ter (p.R489X)	NM_001319107.2	SNV	P	4 +	10
	IQCB1	c.1066C>T	p.Arg356Ter (p.R356X)	NM_001023571.4	SNV	P	4 +	10
1831	IQCB1	c.424_425del	p.Phe142fs (p.F142fs)	NM_001023570.4 M	Del	P	5 +	9
	IQCB1	c.424_425del	p.Phe142fs (p.F142fs)	NM_001023571.4	Del	P	5 +	9
	IQCB1	c.424_425del	p.Phe142fs (p.F142fs)	NM_001319107.2	Del	P	5 +	9
167197	IQCB1	c.1090C>T	p.Arg364Ter (p.R364X)	NM_001023570.4 M	SNV	P	3 +	8
	IQCB1	c.691C>T	p.Arg231Ter (p.R231X)	NM_001023571.4	SNV	P	3 +	8
	IQCB1	c.1090C>T	p.Arg364Ter (p.R364X)	NM_001319107.2	SNV	P	3 +	8
403963	IQCB1	c.897_900dup	p.Ile301fs (p.I301fs)	NM_001023570.4 M	Dup	P	4 +	6
30779	IQCB1	c.1036G>T	p.Glu346Ter (p.E346X)	NM_001023570.4 M	SNV	P	4 +	6
403963	IQCB1	c.897_900dup	p.Ile301fs (p.I301fs)	NM_001319107.2	Dup	P	4 +	6
403963	IQCB1	c.588-5331_588-5328dup	--	NM_001023571.4	Dup	P	4 +	6
30779	IQCB1	c.637G>T	p.Glu213Ter (p.E213X)	NM_001023571.4	SNV	P	4 +	6
30779	IQCB1	c.1036G>T	p.Glu346Ter (p.E346X)	NM_001319107.2	SNV	P	4 +	6
285623	IQCB1	c.214C>T	p.Arg72Ter (p.R72X)	NM_001023570.4 M	SNV	P	4 +	5
1833	IQCB1	c.825_828del	p.Arg275fs (p.R275fs)	NM_001023570.4 M	Del	P	3 +	5

346 Results, 20 per Page

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