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Gene: POMGNT1 & Disease: MDDGB3, 3657 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
56582	POMGNT1	c.1539+1G>A	--	NM_017739.4 M	SNV	P	9 +	17
	POMGNT1	c.1539+1G>A	--	NM_001243766.2	SNV	P	9 +	17
	POMGNT1	c.1539+1G>A	--	NM_001410783.1	SNV	P	9 +	17
	POMGNT1	c.1110+1G>A	--	NM_001290130.2	SNV	P	9 +	17
	POMGNT1	c.1473+1G>A	--	NM_001290129.2	SNV	P	9 +	17
3997	POMGNT1	c.1666G>A	p.Asp556Asn (p.D556N)	NM_017739.4 M	SNV	P	6 +	12
	POMGNT1	c.1666G>A	p.Asp556Asn (p.D556N)	NM_001243766.2	SNV	P	6 +	12
	POMGNT1	c.1600G>A	p.Asp534Asn (p.D534N)	NM_001290129.2	SNV	P	6 +	12
	POMGNT1	c.1237G>A	p.Asp413Asn (p.D413N)	NM_001290130.2	SNV	P	6 +	12
3993	POMGNT1	c.932G>A	p.Arg311Gln (p.R311Q)	NM_017739.4 M	SNV	P	7 +	11
	POMGNT1	c.932G>A	p.Arg311Gln (p.R311Q)	NM_001243766.2	SNV	P	7 +	11
	POMGNT1	c.866G>A	p.Arg289Gln (p.R289Q)	NM_001290129.2	SNV	P	7 +	11
	POMGNT1	c.503G>A	p.Arg168Gln (p.R168Q)	NM_001290130.2	SNV	P	7 +	11
56583	POMGNT1	c.1539+1G>T	--	NM_017739.4 M	SNV	P	3 +	10
56593	POMGNT1	c.1895+1G>T	--	NM_017739.4 M	SNV	P	6 +	10
56583	POMGNT1	c.1539+1G>T	--	NM_001410783.1	SNV	P	3 +	10
	POMGNT1	c.1110+1G>T	--	NM_001290130.2	SNV	P	3 +	10
	POMGNT1	c.1473+1G>T	--	NM_001290129.2	SNV	P	3 +	10
	POMGNT1	c.1539+1G>T	--	NM_001243766.2	SNV	P	3 +	10
56593	POMGNT1	c.1869+27G>T	--	NM_001243766.2	SNV	P	6 +	10

3657 Results, 20 per Page

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