ClinVar Miner

List of variants in gene GLI2 reported as pathogenic for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
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) rs1388607733
NM_005270.4(GLI2):c.322delG (p.Ala108Leufs) rs1553471273
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

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