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Gene: ENTPD1 & Disease: SPG64, 1041 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
541701	ENTPD1	c.1333G>C	p.Gly445Arg (p.G445R)	NM_001776.6 M	SNV	VUS	2 +	2
541703	ENTPD1	c.1020C>T	p.Tyr340= (p.Y340=)	NM_001776.6 M	SNV	LB	2 +	2
704012	ENTPD1	c.1338C>T	p.Ser446= (p.S446=)	NM_001776.6 M	SNV	LB	2 +	2
1348131	ENTPD1	c.1326+6T>C	--	NM_001776.6 M	SNV	VUS	1 +	2
706176	ENTPD1	c.1494C>T	p.Ile498= (p.I498=)	NM_001776.6 M	SNV	LB	2 +	2
1505933	ENTPD1	c.1188+4A>G	--	NM_001776.6 M	SNV	VUS	1 +	2
498850	ENTPD1	c.1479C>G	p.Ile493Met (p.I493M)	NM_001776.6 M	SNV	LB	2 +	2
705302	ENTPD1	c.834C>T	p.Leu278= (p.L278=)	NM_001776.6 M	SNV	LB	2 +	2
1344314	ENTPD1	c.1289C>T	p.Thr430Ile (p.T430I)	NM_001776.6 M	SNV	VUS	2 +	2
1344316	ENTPD1	c.1411C>G	p.Pro471Ala (p.P471A)	NM_001776.6 M	SNV	VUS	2 +	2
1344319	ENTPD1	c.424G>C	p.Glu142Gln (p.E142Q)	NM_001776.6 M	SNV	VUS	2 +	2
1344320	ENTPD1	c.691G>A	p.Glu231Lys (p.E231K)	NM_001776.6 M	SNV	VUS	2 +	2
1165130	ENTPD1	c.263-10T>C	--	NM_001776.6 M	SNV	B	1 +	2
374088	ENTPD1	c.25G>A	p.Val9Met (p.V9M)	NM_001776.6 M	SNV	VUS	4 +	2
965980	ENTPD1	c.920T>A	p.Met307Lys (p.M307K)	NM_001776.6 M	SNV	VUS	2 +	2
703843	ENTPD1	c.877G>A	p.Val293Ile (p.V293I)	NM_001776.6 M	SNV	B	2 +	2
638354	ENTPD1	c.623C>A	p.Thr208Asn (p.T208N)	NM_001776.6 M	SNV	VUS	1 +	2
2129367	ENTPD1	c.1020C>G	p.Tyr340Ter (p.Y340X)	NM_001776.6 M	SNV	P	1 +	2
541701	ENTPD1	c.1354G>C	p.Gly452Arg (p.G452R)	NM_001098175.2	SNV	VUS	2 +	2
541701	ENTPD1	c.1369G>C	p.Gly457Arg (p.G457R)	NM_001164178.1	SNV	VUS	2 +	2

1041 Results, 20 per Page

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