ClinVar Miner

List of variants in gene GLI2 studied for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
GLI2, 1-BP DEL, NT2274
NM_005270.4(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
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.1541A>C (p.Tyr514Ser) rs1553477146
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.1885G>A (p.Glu629Lys) rs387907277
NM_005270.4(GLI2):c.192dup (p.Asp65Terfs) rs1388607733
NM_005270.4(GLI2):c.1956+1G>A rs1558937172
NM_005270.4(GLI2):c.2554G>A (p.Ala852Thr) rs751028726
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.2990C>G (p.Pro997Arg) rs563818052
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
NM_005270.4(GLI2):c.322delG (p.Ala108Leufs) rs1553471273
NM_005270.4(GLI2):c.3261dupC (p.Thr1088Hisfs) rs1057518689
NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) rs115052795
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) rs149140724
NM_005270.4(GLI2):c.4198G>T (p.Gly1400Cys) rs143914758
NM_005270.4(GLI2):c.4332_4333delGCinsAT (p.Met1444_Leu1445delinsIlePhe) rs1553479775
NM_005270.4(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4654A>T (p.Thr1552Ser) rs1057518657
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_005270.4(GLI2):c.864_865del (p.His289Profs) rs398122882
NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs) rs1057518696
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_005270.4:c.1178C>T
NM_005270.4:c.2158C>T
NM_005270.4:c.3893G>A
NM_005270.4:c.677G>A

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