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Gene: PNPT1 & Disease: Autosomal Recessive Nonsyndromic Deafness 70, 27 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
215010	PNPT1	c.1519G>T	p.Ala507Ser (p.A507S)	NM_033109.5 M	SNV	P	4 +	8
209184	PNPT1	c.1592C>G	p.Thr531Arg (p.T531R)	NM_033109.5 M	SNV	P	3 +	5
869396	PNPT1	c.1818T>G	p.Val606= (p.V606=)	NM_033109.5 M	SNV	P	3 +	4
1455027	PNPT1	c.1748dup	p.Glu584fs (p.E584fs)	NM_033109.5 M	Dup	P	2 +	3
209185	PNPT1	c.1525G>A	p.Val509Ile (p.V509I)	NM_033109.5 M	SNV	LP	4 +	2
39802	PNPT1	c.1424A>G	p.Glu475Gly (p.E475G)	NM_033109.5 M	SNV	P	2 +	1
1705644	PNPT1	c.574C>T	p.Arg192Ter (p.R192X)	NM_033109.5 M	SNV	P	2 +	1
1695433	PNPT1	c.2234T>C	p.Met745Thr (p.M745T)	NM_033109.5 M	SNV	P	2 +	1
671588	PNPT1	c.1247+29C>T	--	NM_033109.5 M	SNV	B	3 +	1
972896	PNPT1	c.137C>G	p.Ala46Gly (p.A46G)	NM_033109.5 M	SNV	LP	2 +	0
972897	PNPT1	c.1619A>G	p.Asn540Ser (p.N540S)	NM_033109.5 M	SNV	P	3 +	0
805221	PNPT1	c.1925_1927del	p.Val642Del (p.V642del)	NM_033109.5 M	Del	VUS	2 +	0
1031031	PNPT1	c.1676C>G	p.Ala559Gly (p.A559G)	NM_033109.5 M	SNV	VUS	3 +	0
1541460	PNPT1	c.1285-4del	--	NM_033109.5 M	Del	LB	3 +	0
138735	PNPT1	c.1074-19A>G	--	NM_033109.5 M	SNV	B	3 +	0
138737	PNPT1	c.1390C>A	p.Arg464= (p.R464=)	NM_033109.5 M	SNV	B	3 +	0
138742	PNPT1	c.361A>G	p.Ile121Val (p.I121V)	NM_033109.5 M	SNV	B	3 +	0
671587	PNPT1	c.867-47T>A	--	NM_033109.5 M	SNV	B	3 +	0
1034189	PNPT1	c.298-2A>T	--	NM_033109.5 M	SNV	P	2 +	0
1034190	PNPT1	c.918del	p.Val307fs (p.V307fs)	NM_033109.5 M	Del	P	2 +	0

27 Results, 20 per Page

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