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Gene: SF3B2 & Disease: CFM1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1342663	SF3B2	c.1A>T	p.Met1Leu (p.M1L)	NM_006842.3 M	SNV	P	1 +	2
1342661	SF3B2	c.1780-2del	--	NM_006842.3 M	Del	P	1 +	1
1342662	SF3B2	c.1912C>T	p.Arg638Ter (p.R638X)	NM_006842.3 M	SNV	P	1 +	1
1342664	SF3B2	c.2480dup	p.Leu828fs (p.L828fs)	NM_006842.3 M	Dup	P	1 +	1

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