ClinVar Miner

List of variants in gene ZIC2 studied for alobar holoprosencephaly

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
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.1093_1094TG[1] (p.Cys365_Glu366delinsTer) rs1060499562
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) rs1060499564
NM_007129.5(ZIC2):c.1215del (p.Ser406fs)
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) rs1456001894
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs)
NM_007129.5(ZIC2):c.692_694ACC[8] (p.His239del) rs398124241
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.858C>G (p.His286Gln)
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
ZIC2, 2-BP DEL, 180AC

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