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Gene: RIPPLY2 & Disease: SCDO5, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
221271	RIPPLY2	c.238A>T	p.Arg80Ter (p.R80X)	NM_001009994.3 M	SNV	P	3 +	2
221272	RIPPLY2	c.240-4T>G	--	NM_001009994.3 M	SNV	P	3 +	2
221271	RIPPLY2	c.301A>T	p.Arg101Ter (p.R101X)	NM_001400899.1	SNV	P	3 +	2
221271	RIPPLY2	c.238A>T	p.Arg80Trp (p.R80W)	NM_001400900.1	SNV	P	3 +	2
221272	RIPPLY2	c.*3073T>G	--	NM_001400900.1	SNV	P	3 +	2
221272	RIPPLY2	c.303-4T>G	--	NM_001400899.1	SNV	P	3 +	2

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