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Gene: ATP6V1B2 & Disease: ZLS2, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
183414	ATP6V1B2	c.1454G>C	p.Arg485Pro (p.R485P)	NM_001693.4 M	SNV	P	2 +	3
1192466	ATP6V1B2	c.463+6T>G	--	NM_001693.4 M	SNV	B	2 +	0
634920	ATP6V1B2	c.1465A>T	p.Lys489Ter (p.K489X)	NM_001693.4 M	SNV	P	1 +	0
930988	ATP6V1B2	c.1437T>G	p.Ile479Met (p.I479M)	NM_001693.4 M	SNV	VUS	1 +	0
1334193	ATP6V1B2	c.1121A>G	p.Glu374Gly (p.E374G)	NM_001693.4 M	SNV	P	1 +	0
431094	ATP6V1B2	c.1120G>C	p.Glu374Gln (p.E374Q)	NM_001693.4 M	SNV	LP	1 +	0
2572643	ATP6V1B2	c.124C>T	p.Gln42Ter (p.Q42X)	NM_001693.4 M	SNV	LP	1 +	0

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