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: 22
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
GLI2, 1-BP DEL, NT2274
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter)
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) rs1388607733
NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)
NM_001374353.1(GLI2):c.2454del (p.Ser819fs)
NM_001374353.1(GLI2):c.2651del (p.Pro884fs)
NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs) rs1057518689
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.3567del (p.Gln1189fs) rs1683179008
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
NM_001374353.1(GLI2):c.49del (p.Ser17fs) rs2104696745
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs) rs1681993062
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882
NM_001374353.1(GLI2):c.891del (p.Gln297fs) rs1057518696
NM_001374353.1(GLI2):c.9dup (p.Ser4fs)

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