ClinVar Miner

List of variants reported as benign for Holoprosencephaly 5

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1059C>T (p.His353=) rs1831992 0.07872
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_007129.5(ZIC2):c.1239+18G>A rs139312964 0.02063
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.1554G>A (p.Gly518=) rs199669243 0.00264
NM_007129.5(ZIC2):c.546G>T (p.Gly182=) rs200407312 0.00254
NM_007129.5(ZIC2):c.1240-10T>G rs567951541 0.00025
NM_007129.5(ZIC2):c.1314G>A (p.Pro438=) rs762579383 0.00001
NM_007129.5(ZIC2):c.1281C>G (p.Ala427=)
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007129.5(ZIC2):c.692ACC[8] (p.His239del) rs398124241

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