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Gene: DVL1 & Disease: RRS1, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
208049	DVL1	c.1637del	p.Pro546fs (p.P546fs)	NM_001330311.2 M	Del	P	3 +	3
208049	DVL1	c.1562del	p.Pro521fs (p.P521fs)	NM_004421.3	Del	P	3 +	3
1026244	DVL1	c.1454A>G	p.Asn485Ser (p.N485S)	NM_001330311.2 M	SNV	B	3 +	0
788936	DVL1	c.272C>T	p.Ala91Val (p.A91V)	NM_001330311.2 M	SNV	LB	3 +	0
719587	DVL1	c.433C>T	p.Arg145Trp (p.R145W)	NM_001330311.2 M	SNV	LB	2 +	0
445553	DVL1	c.1366A>G	p.Thr456Ala (p.T456A)	NM_001330311.2 M	SNV	LB	3 +	0
1479849	DVL1	c.382C>T	p.Arg128Cys (p.R128C)	NM_001330311.2 M	SNV	VUS	3 +	0
931592	DVL1	c.2078_*7del	p.Asp693_Ter696delinsXaa	NM_001330311.2 M	Del	VUS	2 +	0
931630	DVL1	c.1682_1683dup	p.Ser562fs (p.S562fs)	NM_001330311.2 M	Dup	LP	2 +	0
1026244	DVL1	c.1379A>G	p.Asn460Ser (p.N460S)	NM_004421.3	SNV	B	3 +	0
788936	DVL1	c.272C>T	p.Ala91Val (p.A91V)	NM_004421.3	SNV	LB	3 +	0
719587	DVL1	c.433C>T	p.Arg145Trp (p.R145W)	NM_004421.3	SNV	LB	2 +	0
445553	DVL1	c.1291A>G	p.Thr431Ala (p.T431A)	NM_004421.3	SNV	LB	3 +	0
1479849	DVL1	c.382C>T	p.Arg128Cys (p.R128C)	NM_004421.3	SNV	VUS	3 +	0
931592	DVL1	c.2003_*7del	p.Asp668_Ter671delinsXaa	NM_004421.3	Del	VUS	2 +	0
931630	DVL1	c.1607_1608dup	p.Ser537fs (p.S537fs)	NM_004421.3	Dup	LP	2 +	0

16 Results, 20 per Page

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