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Gene: TSPOAP1 & Disease: BBS, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2500157	TSPOAP1	c.25C>T	p.Arg9Trp (p.R9W)	NM_004758.4 M	SNV	VUS	1 +	1
2498299	TSPOAP1	c.1567C>T	p.Gln523Ter (p.Q523X)	NM_004758.4 M	SNV	P	1 +	1
2500157	TSPOAP1	c.25C>T	p.Arg9Trp (p.R9W)	NM_001261835.2	SNV	VUS	1 +	1
2500157	TSPOAP1	c.25C>T	p.Arg9Trp (p.R9W)	NM_024418.3	SNV	VUS	1 +	1
2498299	TSPOAP1	c.1567C>T	p.Gln523Ter (p.Q523X)	NM_001261835.2	SNV	P	1 +	1
2498299	TSPOAP1	c.1387C>T	p.Gln463Ter (p.Q463X)	NM_024418.3	SNV	P	1 +	1

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