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Gene: ADAMTS9 & Disease: Juvenile Nephronophthisis, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1344640	ADAMTS9	c.194C>G	p.Thr65Arg (p.T65R)	NM_182920.2 M	SNV	LP	2 +	1
1344639	ADAMTS9	c.4575_4576del	p.Gln1525fs (p.Q1525fs)	NM_182920.2 M	Del	LP	2 +	1
1344640	ADAMTS9	c.194C>G	p.Thr65Arg (p.T65R)	NM_001318781.2	SNV	LP	2 +	1
1344639	ADAMTS9	c.4491_4492del	p.Gln1497fs (p.Q1497fs)	NM_001318781.2	Del	LP	2 +	1

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