ClinVar Miner

List of variants in gene ZIC2 reported by Muenke lab, National Institutes of Health

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007129.3:c.1148_1464del
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.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563

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