ClinVar Miner

List of variants in gene ZIC2 reported as pathogenic for Holoprosencephaly 5

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1076-2A>T rs1555332361
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) rs1555332362
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) rs397515500
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer) rs1060499562
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) rs1060499564
NM_007129.5(ZIC2):c.1156del (p.Val386fs) rs2152163567
NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del)
NM_007129.5(ZIC2):c.1215del (p.Ser406fs) rs1594291863
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs) rs2053238266
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
NM_007129.5(ZIC2):c.722del (p.Gly241fs)
NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.857_858del (p.His286fs) rs2152162709
NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter)
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
NM_007129.5(ZIC2):c.973C>T (p.Arg325Cys) rs2152162756

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