ClinVar Miner

List of variants in gene GLI3 reported by GeneReviews

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000168.6(GLI3):c.1999_2002CGAC[1] (p.Pro668fs) rs116840742
NM_000168.6(GLI3):c.2012del (p.Gly671fs) rs116840743
NM_000168.6(GLI3):c.2023del (p.Glu675fs) rs116840744
NM_000168.6(GLI3):c.2032del (p.Asp678fs) rs116840745
NM_000168.6(GLI3):c.2058_2059delinsAT (p.Glu687Ter) rs116840746
NM_000168.6(GLI3):c.2062G>T (p.Glu688Ter) rs116840747
NM_000168.6(GLI3):c.2110C>T (p.Gln704Ter) rs116840748
NM_000168.6(GLI3):c.2139del (p.Ser712_Cys713insTer) rs116840749
NM_000168.6(GLI3):c.2146C>T (p.Gln716Ter) rs116840750
NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter) rs116840751
NM_000168.6(GLI3):c.2157del (p.Ile720fs) rs116840752
NM_000168.6(GLI3):c.2172dup (p.Asn725fs) rs116840753
NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs) rs116840754
NM_000168.6(GLI3):c.2197_2198del (p.Thr733fs) rs116840755
NM_000168.6(GLI3):c.2346_2356del (p.Arg782fs) rs116840756
NM_000168.6(GLI3):c.2351_2355del (p.Lys784fs) rs116840757
NM_000168.6(GLI3):c.2431+1G>A rs116840758
NM_000168.6(GLI3):c.2483del (p.Pro828fs) rs116840759
NM_000168.6(GLI3):c.2567C>A (p.Ser856Ter) rs116840760
NM_000168.6(GLI3):c.2620del (p.Arg874fs) rs116840761
NM_000168.6(GLI3):c.2628del (p.Ser877fs) rs116840762
NM_000168.6(GLI3):c.2799C>G (p.Tyr933Ter) rs116840763
NM_000168.6(GLI3):c.2935del (p.Cys979fs) rs116840764
NM_000168.6(GLI3):c.3004del (p.Gly1001_Val1002insTer) rs116840765
NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter) rs116840766
NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer) rs116840767
NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter) rs116840768
NM_000168.6(GLI3):c.3456G>T (p.Glu1152Asp) rs116840769
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) rs116840770

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