ClinVar Miner

List of variants studied for Holoprosencephaly 5 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297 0.00772
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241

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