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Gene: PMS1 & Disease: HNPCC, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523375	PMS1	c.1241G>A	p.Gly414Asp (p.G414D)	NM_000534.5 M	SNV	VUS	1 +	0
	PMS1	c.1124G>A	p.Gly375Asp (p.G375D)	NM_001128143.2	SNV	VUS	1 +	0
	PMS1	c.1241G>A	p.Gly414Asp (p.G414D)	NM_001128144.2	SNV	VUS	1 +	0
	PMS1	c.713G>A	p.Gly238Asp (p.G238D)	NM_001289408.2	SNV	VUS	1 +	0
	PMS1	c.713G>A	p.Gly238Asp (p.G238D)	NM_001289409.2	SNV	VUS	1 +	0
	PMS1	c.1124G>A	p.Gly375Asp (p.G375D)	NM_001321044.2	SNV	VUS	1 +	0
	PMS1	c.1241G>A	p.Gly414Asp (p.G414D)	NM_001321045.2	SNV	VUS	1 +	0
	PMS1	c.1058G>A	p.Gly353Asp (p.G353D)	NM_001321046.2	SNV	VUS	1 +	0
	PMS1	c.1241G>A	p.Gly414Asp (p.G414D)	NM_001321047.2	SNV	VUS	1 +	0
	PMS1	c.1241G>A	p.Gly414Asp (p.G414D)	NM_001321048.2	SNV	VUS	1 +	0

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