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Gene: GLA & Disease: CMH1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10748	GLA	c.427G>A	p.Ala143Thr (p.A143T)	NM_000169.3 M	SNV	P	2 +	48
10715	GLA	c.902G>A	p.Arg301Gln (p.R301Q)	NM_000169.3 M	SNV	P	2 +	22
217414	GLA	c.1196G>C	p.Trp399Ser (p.W399S)	NM_000169.3 M	SNV	LP	3 +	6
520522	GLA	c.616C>T	p.Leu206Phe (p.L206F)	NM_000169.3 M	SNV	VUS	2 +	3
923075	GLA	c.73G>A	p.Asp25Asn (p.D25N)	NM_000169.3 M	SNV	VUS	2 +	2
520521	GLA	c.465T>G	p.Asp155Glu (p.D155E)	NM_000169.3 M	SNV	VUS	1 +	1
684855	GLA	c.869T>C	p.Met290Thr (p.M290T)	NM_000169.3 M	SNV	LP	1 +	1
684856	GLA	c.1042G>C	p.Ala348Pro (p.A348P)	NM_000169.3 M	SNV	LP	1 +	1

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