List of variants reported as pathogenic for Zimmermann-Laband syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001693.4(ATP6V1B2):c.1121A>G (p.Glu374Gly)	rs2128886555
NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro)	rs730882177
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter)	rs1585256207
NM_002238.3(KCNH1):c.[1066G>C;974C>A]
NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)	rs1571260285
NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)	rs1571259807
NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)	rs2101782564
NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu)	rs1571353663
NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)	rs730882172
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)	rs730882174
NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg)
NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)	rs730882176
NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)	rs730882173
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	rs730882175

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