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Gene: MAN1B1 & Disease: RAFQS, 314 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30415	MAN1B1	c.1000C>T	p.Arg334Cys (p.R334C)	NM_016219.5 M	SNV	P	1 +	7
129571	MAN1B1	c.2020G>A	p.Asp674Asn (p.D674N)	NM_016219.5 M	SNV	LB	1 +	3
786564	MAN1B1	c.1095C>T	p.Ala365= (p.A365=)	NM_016219.5 M	SNV	LB	1 +	2
211419	MAN1B1	c.1287C>T	p.His429= (p.H429=)	NM_016219.5 M	SNV	LB	1 +	2
211420	MAN1B1	c.1433A>G	p.Lys478Arg (p.K478R)	NM_016219.5 M	SNV	LB	1 +	2
211421	MAN1B1	c.1744C>T	p.Arg582Cys (p.R582C)	NM_016219.5 M	SNV	LB	1 +	2
211422	MAN1B1	c.1800C>T	p.Thr600= (p.T600=)	NM_016219.5 M	SNV	LB	1 +	2
211426	MAN1B1	c.1980C>T	p.Phe660= (p.F660=)	NM_016219.5 M	SNV	LB	1 +	2
211430	MAN1B1	c.635T>G	p.Val212Gly (p.V212G)	NM_016219.5 M	SNV	LB	1 +	2
211427	MAN1B1	c.213C>G	p.Cys71Trp (p.C71W)	NM_016219.5 M	SNV	VUS	1 +	2
129569	MAN1B1	c.1229G>A	p.Arg410His (p.R410H)	NM_016219.5 M	SNV	B	1 +	2
129573	MAN1B1	c.1765-5C>A	--	NM_016219.5 M	SNV	LB	1 +	2
129572	MAN1B1	c.586C>T	p.Arg196Cys (p.R196C)	NM_016219.5 M	SNV	VUS	1 +	2
129575	MAN1B1	c.1841G>A	p.Arg614His (p.R614H)	NM_016219.5 M	SNV	LB	1 +	2
129576	MAN1B1	c.1932C>T	p.Val644= (p.V644=)	NM_016219.5 M	SNV	LB	1 +	2
129577	MAN1B1	c.2046T>C	p.Asp682= (p.D682=)	NM_016219.5 M	SNV	LB	1 +	2
1770027	MAN1B1	c.1327A>G	p.Ile443Val (p.I443V)	NM_016219.5 M	SNV	LB	1 +	2
129580	MAN1B1	c.590C>T	p.Pro197Leu (p.P197L)	NM_016219.5 M	SNV	B	1 +	2
129583	MAN1B1	c.776A>G	p.His259Arg (p.H259R)	NM_016219.5 M	SNV	VUS	1 +	2
129581	MAN1B1	c.602C>T	p.Pro201Leu (p.P201L)	NM_016219.5 M	SNV	LB	1 +	2

314 Results, 20 per Page

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