ClinVar Miner

List of variants reported as pathogenic for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
1 bp del G 7
GLI2, 1-BP DEL, NT2274
NC_000013.11:g.(?_99385979)_(99986648_?)del
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) rs1388607733
NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs) rs1057518689
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882
NM_001374353.1(GLI2):c.891del (p.Gln297fs) rs1057518696
NM_005270.5(GLI2):c.3618del (p.Gln1206fs)
NM_007129.3(ZIC2):c.1366_1368(15_45)
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) rs1594291863
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) rs756225250
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
ZIC2, 2-BP DEL, 180AC

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