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Gene: IL17RD & Disease: BAVM, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
180145	IL17RD	c.572C>T	p.Pro191Leu (p.P191L)	NM_017563.5 M	SNV	LP	1 +	1
180145	IL17RD	c.140C>T	p.Pro47Leu (p.P47L)	NM_001318864.2	SNV	LP	1 +	1
545109	IL17RD	c.676G>A	p.Gly226Ser (p.G226S)	NM_017563.5 M	SNV	LP	1 +	0
545109	IL17RD	c.244G>A	p.Gly82Ser (p.G82S)	NM_001318864.2	SNV	LP	1 +	0

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