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Gene: GMPPB & Disease: Congenital Muscular Dystrophy-Dystroglycanopathy A14, 529 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
60545	GMPPB	c.860G>A	p.Arg287Gln (p.R287Q)	NM_021971.4 M	SNV	P	4 +	16
60545	GMPPB	c.860G>A	p.Arg287Gln (p.R287Q)	NM_013334.4	SNV	P	4 +	16
60546	GMPPB	c.79G>C	p.Asp27His (p.D27H)	NM_021971.4 M	SNV	P	5 +	14
60546	GMPPB	c.79G>C	p.Asp27His (p.D27H)	NM_013334.4	SNV	P	5 +	14
225925	GMPPB	c.859C>T	p.Arg287Trp (p.R287W)	NM_021971.4 M	SNV	P	5 +	11
225925	GMPPB	c.859C>T	p.Arg287Trp (p.R287W)	NM_013334.4	SNV	P	5 +	11
966838	GMPPB	c.728_746delinsACAGA	p.Arg243fs (p.R243fs)	NM_021971.4 M	Indel	P	4 +	6
966838	GMPPB	c.728_746delinsACAGA	p.Arg243fs (p.R243fs)	NM_013334.4	Indel	P	4 +	6
60544	GMPPB	c.95C>T	p.Pro32Leu (p.P32L)	NM_021971.4 M	SNV	P	4 +	5
60543	GMPPB	c.553C>T	p.Arg185Cys (p.R185C)	NM_021971.4 M	SNV	P	5 +	5
575991	GMPPB	c.656T>C	p.Ile219Thr (p.I219T)	NM_021971.4 M	SNV	P	4 +	5
60547	GMPPB	c.988G>A	p.Val330Ile (p.V330I)	NM_021971.4 M	SNV	P	5 +	5
60540	GMPPB	c.1000G>A	p.Asp334Asn (p.D334N)	NM_021971.4 M	SNV	P	4 +	5
60544	GMPPB	c.95C>T	p.Pro32Leu (p.P32L)	NM_013334.4	SNV	P	4 +	5
60543	GMPPB	c.553C>T	p.Arg185Cys (p.R185C)	NM_013334.4	SNV	P	5 +	5
575991	GMPPB	c.656T>C	p.Ile219Thr (p.I219T)	NM_013334.4	SNV	P	4 +	5
60547	GMPPB	c.1069G>A	p.Val357Ile (p.V357I)	NM_013334.4	SNV	P	5 +	5
60540	GMPPB	c.1081G>A	p.Asp361Asn (p.D361N)	NM_013334.4	SNV	P	4 +	5
225926	GMPPB	c.760G>A	p.Val254Met (p.V254M)	NM_021971.4 M	SNV	P	4 +	4
225926	GMPPB	c.760G>A	p.Val254Met (p.V254M)	NM_013334.4	SNV	P	4 +	4

529 Results, 20 per Page

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