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Gene: MMAB & Disease: MMA, 39 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
3095	MMAB	c.556C>T	p.Arg186Trp (p.R186W)	NM_052845.4 M	SNV	P	2 +	15
219004	MMAB	c.291-1G>A	--	NM_052845.4 M	SNV	P	2 +	9
219008	MMAB	c.197-1G>T	--	NM_052845.4 M	SNV	P	2 +	9
203819	MMAB	c.569G>A	p.Arg190His (p.R190H)	NM_052845.4 M	SNV	P	2 +	8
551214	MMAB	c.454G>T	p.Glu152Ter (p.E152X)	NM_052845.4 M	SNV	P	2 +	4
203820	MMAB	c.700C>T	p.Gln234Ter (p.Q234X)	NM_052845.4 M	SNV	P	2 +	4
218322	MMAB	c.584G>A	p.Arg195His (p.R195H)	NM_052845.4 M	SNV	P	2 +	4
262246	MMAB	c.56G>A	p.Arg19His (p.R19H)	NM_052845.4 M	SNV	B	4 +	3
262247	MMAB	c.57C>A	p.Arg19= (p.R19=)	NM_052845.4 M	SNV	LB	4 +	3
218327	MMAB	c.567CCG[3]	p.Arg191Dup (p.R191dup)	NM_052845.4 M	MS	P	2 +	3
203822	MMAB	c.563_577dup	p.Val188_Ala192dup	NM_052845.4 M	Dup	P	2 +	2
96243	MMAB	c.288T>C	p.Ile96= (p.I96=)	NM_052845.4 M	SNV	LB	4 +	2
1173993	MMAB	c.367del	p.Asp123fs (p.D123fs)	NM_052845.4 M	Del	P	2 +	1
307042	MMAB	c.1076_1079del	--	NM_052845.4 M	Del	VUS	1 +	0
307059	MMAB	c.*380AG[3]	--	NM_052845.4 M	MS	VUS	1 +	0
307064	MMAB	c.*336TG[21]	--	NM_052845.4 M	MS	VUS	1 +	0
307066	MMAB	c.*336TG[19]	--	NM_052845.4 M	MS	VUS	1 +	0
307067	MMAB	c.368_378delinsA	--	NM_052845.4 M	Indel	VUS	1 +	0
307068	MMAB	c.368_378delinsAGA	--	NM_052845.4 M	Indel	VUS	1 +	0
307081	MMAB	c.378G>T	p.Ser126= (p.S126=)	NM_052845.4 M	SNV	VUS	1 +	0

39 Results, 20 per Page

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