ClinVar Miner

Variants in gene GLI3 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: 16
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HGVS dbSNP
NM_000168.6(GLI3):c.*185G>A rs531678760
NM_000168.6(GLI3):c.*2276T>C rs568393106
NM_000168.6(GLI3):c.*2620C>G rs56158069
NM_000168.6(GLI3):c.*3309C>A rs553151369
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.2432-5T>C rs768250382
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.3903A>G (p.Pro1301=) rs758771584
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) rs79625212
NM_000168.6(GLI3):c.648C>T (p.Ile216=) rs886043938

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