List of variants studied for Zimmermann-Laband syndrome 2

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001693.4(ATP6V1B2):c.463+6T>G	rs7460146	0.97896
NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)	rs1135401772
NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly)	rs2128886555
NM_001693.4(ATP6V1B2):c.1241A>T (p.Asp414Val)
NM_001693.4(ATP6V1B2):c.124C>T (p.Gln42Ter)
NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met)	rs2072895089
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	rs730882177
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter)	rs1585256207

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