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Gene: SEC61A1 & Disease: Polycystic Liver Disease, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1255613	SEC61A1	c.706C>T	p.Arg236Cys (p.R236C)	NM_013336.4 M	SNV	LP	2 +	0
1255612	SEC61A1	c.707G>A	p.Arg236His (p.R236H)	NM_013336.4 M	SNV	VUS	2 +	0
1255613	SEC61A1	c.724C>T	p.Arg242Cys (p.R242C)	NM_001400328.1	SNV	LP	2 +	0
1255613	SEC61A1	c.547C>T	p.Arg183Cys (p.R183C)	NM_001400329.1	SNV	LP	2 +	0
1255612	SEC61A1	c.725G>A	p.Arg242His (p.R242H)	NM_001400328.1	SNV	VUS	2 +	0
1255612	SEC61A1	c.548G>A	p.Arg183His (p.R183H)	NM_001400329.1	SNV	VUS	2 +	0

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