List of variants in gene ATP6V1B2 reported as pathogenic for Zimmermann-Laband syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly)	rs2128886555
NM_001693.4(ATP6V1B2):c.1192C>G (p.Leu398Val)
NM_001693.4(ATP6V1B2):c.1443G>A (p.Trp481Ter)
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	rs730882177

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