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: 27
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HGVS dbSNP
1 bp del G 7
GLI2, 1-BP DEL, NT2274
NM_005270.4(GLI2):c.1323G>A (p.Trp441Ter) rs121917707
NM_005270.4(GLI2):c.1435C>G (p.Arg479Gly) rs121917708
NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys) rs387907277
NM_005270.4(GLI2):c.192dup (p.Asp65Terfs)
NM_005270.4(GLI2):c.3261dupC (p.Thr1088Hisfs) rs1057518689
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.864_865del (p.His289Profs) rs398122882
NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs) rs1057518696
NM_007129.3(ZIC2):c.1366_1368(15_45) rs749567106
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.1040_1046del (p.Glu348Serfs) rs397515365
NM_007129.4(ZIC2):c.1076-2A>T rs1555332361
NM_007129.4(ZIC2):c.1085_1131del47 (p.Pro362Glnfs) rs1555332362
NM_007129.4(ZIC2):c.1091_1092del (p.Gln364Leufs) rs397515500
NM_007129.4(ZIC2):c.1095_1096del (p.Cys365Terfs) rs1060499562
NM_007129.4(ZIC2):c.1097_1098delAG (p.Glu366Valfs) rs1060499564
NM_007129.4(ZIC2):c.1318dup (p.Leu440Profs) rs397515364
NM_007129.4(ZIC2):c.1377_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs756225250
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.4(ZIC2):c.321del (p.Tyr108Thrfs) rs1555332212
NM_007129.4(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.4(ZIC2):c.936del (p.Lys312Asnfs) rs397515499
ZIC2, 2-BP DEL, 180AC
ZIC2, 7-BP DEL, NT392

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