ClinVar Miner

Variants in gene GLI2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092 0.00035
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024 0.00009
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu) rs749402521 0.00005
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.765G>A (p.Ser255=) rs200901345 0.00001
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240

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