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Gene: ALMS1 & Disease: STGD1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
212728	ALMS1	c.5142T>G	p.Tyr1714Ter (p.Y1714X)	NM_001378454.1 M	SNV	P	2 +	7
212728	ALMS1	c.5145T>G	p.Tyr1715Ter (p.Y1715X)	NM_015120.4	SNV	P	2 +	7
977961	ALMS1	c.3149dup	p.Tyr1050Ter (p.Y1050X)	NM_001378454.1 M	Dup	P	1 +	0
977955	ALMS1	c.5173dup	p.Ala1725fs (p.A1725fs)	NM_001378454.1 M	Dup	P	1 +	0
977961	ALMS1	c.3152dup	p.Tyr1051Ter (p.Y1051X)	NM_015120.4	Dup	P	1 +	0
977942	ALMS1	c.1241_1341del	--	NM_015120.4	Del	P	1 +	0
977955	ALMS1	c.5176dup	p.Ala1726fs (p.A1726fs)	NM_015120.4	Dup	P	1 +	0

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