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Gene: MNX1 & Disease: CURRAS, 59 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
435883	MNX1	c.53dup	p.Arg19fs (p.R19fs)	NM_005515.4 M	Dup	P	1 +	6
14850	MNX1	c.570del	p.Gly191fs (p.G191fs)	NM_005515.4 M	Del	P	1 +	2
14851	MNX1	c.775C>T	p.Gln259Ter (p.Q259X)	NM_005515.4 M	SNV	P	1 +	2
1047679	MNX1	c.509C>G	p.Ala170Gly (p.A170G)	NM_005515.4 M	SNV	VUS	1 +	2
1427317	MNX1	c.1074GGACGA[2]	p.358ED[2]	NM_005515.4 M	MS	LB	1 +	2
1427317	MNX1	c.1086_1091del	--	NM_005515.4 M	MS	LB	1 +	2
1699254	MNX1	c.863G>A	p.Trp288Ter (p.W288X)	NM_005515.4 M	SNV	P	1 +	2
1699280	MNX1	c.488_494dup	p.Tyr166fs (p.Y166fs)	NM_005515.4 M	Dup	P	1 +	2
14851	MNX1	c.139C>T	p.Gln47Ter (p.Q47X)	NM_001165255.2	SNV	P	1 +	2
1427317	MNX1	c.438GGACGA[2]	p.146ED[2]	NM_001165255.2	MS	LB	1 +	2
1699254	MNX1	c.227G>A	p.Trp76Ter (p.W76X)	NM_001165255.2	SNV	P	1 +	2
14852	MNX1	c.340del	p.His114fs (p.H114fs)	NM_005515.4 M	Del	P	1 +	1
14853	MNX1	c.492C>A	p.Tyr164Ter (p.Y164X)	NM_005515.4 M	SNV	P	1 +	1
14855	MNX1	c.853-2A>G	--	NM_005515.4 M	SNV	P	1 +	1
14856	MNX1	c.852+1G>A	--	NM_005515.4 M	SNV	P	1 +	1
14857	MNX1	c.736A>T	p.Thr246Ser (p.T246S)	NM_005515.4 M	SNV	P	1 +	1
14859	MNX1	c.844G>T	p.Glu282Ter (p.E282X)	NM_005515.4 M	SNV	P	1 +	1
1684291	MNX1	c.869A>G	p.Gln290Arg (p.Q290R)	NM_005515.4 M	SNV	LP	1 +	1
1805749	MNX1	c.852G>A	p.Gln284= (p.Q284=)	NM_005515.4 M	SNV	VUS	1 +	1
14855	MNX1	c.217-2A>G	--	NM_001165255.2	SNV	P	1 +	1

59 Results, 20 per Page

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