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Gene: ATM & Disease: BROVCA1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
234265	ATM	c.3257G>A	p.Arg1086His (p.R1086H)	NM_000051.4 M	SNV	VUS	3 +	10
234265	ATM	c.3257G>A	p.Arg1086His (p.R1086H)	NM_001351834.2	SNV	VUS	3 +	10
181940	ATM	c.3154-2A>G	--	NM_000051.4 M	SNV	P	3 +	7
181940	ATM	c.3154-2A>G	--	NM_001351834.2	SNV	P	3 +	7
233573	ATM	c.5631_5635delinsA	p.Phe1877fs (p.F1877fs)	NM_000051.4 M	Indel	P	3 +	4
233573	ATM	c.5631_5635delinsA	p.Phe1877fs (p.F1877fs)	NM_001351834.2	Indel	P	3 +	4
231363	ATM	c.7370A>C	p.Glu2457Ala (p.E2457A)	NM_000051.4 M	SNV	LB	3 +	1
231363	ATM	c.7370A>C	p.Glu2457Ala (p.E2457A)	NM_001351834.2	SNV	LB	3 +	1

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