List of variants reported as likely pathogenic for Zimmermann-Laband syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)	rs1135401772
NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter)
NM_001693.4(ATP6V1B2):c.487C>G (p.Arg163Gly)
NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln)	rs1684483227

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