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Gene: POLG & Disease: MCHS, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
206556	POLG	c.3286C>T	p.Arg1096Cys (p.R1096C)	NM_002693.3 M	SNV	P	11 +	15
206556	POLG	c.3286C>T	p.Arg1096Cys (p.R1096C)	NM_001126131.2	SNV	P	11 +	15
872916	POLG	c.3102delG	--	NM_002693.3 M	Del	P	1 +	1
	POLG	c.3102del	p.Lys1035fs (p.K1035fs)	NM_002693.3 M	Del	P	1 +	1
	POLG	c.3102del	p.Lys1035fs (p.K1035fs)	NM_001126131.2	Del	P	1 +	1

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