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Gene: CLCF1 & Disease: CISS2, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39568	CLCF1	c.676T>C	p.Ter226Arg (p.X226R)	NM_013246.3 M	SNV	P	1 +	1
548547	CLCF1	c.163C>T	p.Arg55Cys (p.R55C)	NM_013246.3 M	SNV	VUS	1 +	1
2930	CLCF1	c.321C>A	p.Tyr107Ter (p.Y107X)	NM_013246.3 M	SNV	P	1 +	1
2931	CLCF1	c.590G>T	p.Arg197Leu (p.R197L)	NM_013246.3 M	SNV	P	1 +	1
21503	CLCF1	c.46T>C	p.Cys16Arg (p.C16R)	NM_013246.3 M	SNV	P	1 +	1
39568	CLCF1	c.646T>C	p.Ter216Arg (p.X216R)	NM_001166212.2	SNV	P	1 +	1
548547	CLCF1	c.133C>T	p.Arg45Cys (p.R45C)	NM_001166212.2	SNV	VUS	1 +	1
2930	CLCF1	c.291C>A	p.Tyr97Ter (p.Y97X)	NM_001166212.2	SNV	P	1 +	1
2931	CLCF1	c.560G>T	p.Arg187Leu (p.R187L)	NM_001166212.2	SNV	P	1 +	1
21503	CLCF1	c.16T>C	p.Cys6Arg (p.C6R)	NM_001166212.2	SNV	P	1 +	1

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