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Gene: RNASEH2B & Disease: AGS, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1262	RNASEH2B	c.529G>A	p.Ala177Thr (p.A177T)	NM_024570.4 M	SNV	P	6 +	39
1262	RNASEH2B	c.529G>A	p.Ala177Thr (p.A177T)	NM_001142279.2	SNV	P	6 +	39
281198	RNASEH2B	c.925dup	p.Ile309fs (p.I309fs)	NM_024570.4 M	Dup	LB	2 +	2
448169	RNASEH2B	c.698+1G>A	--	NM_024570.4 M	SNV	LP	2 +	2
281198	RNASEH2B	c.741+6955dup	--	NM_001142279.2	Dup	LB	2 +	2
448169	RNASEH2B	c.698+1G>A	--	NM_001142279.2	SNV	LP	2 +	2
448169	RNASEH2B	c.698+1G>A	--	NM_001411023.1	SNV	LP	2 +	2
1456507	RNASEH2B	c.331C>T	p.Gln111Ter (p.Q111X)	NM_024570.4 M	SNV	P	2 +	1
1456507	RNASEH2B	c.331C>T	p.Gln111Ter (p.Q111X)	NM_001142279.2	SNV	P	2 +	1
312322	RNASEH2B	c.-313C>G	--	NM_001142279.2	SNV	VUS	1 +	0

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