List of variants in gene GLI3 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000168.6(GLI3):c.2431+1G>A
NM_000168.6(GLI3):c.2901del (p.Val968fs)	rs1064796278
NM_000168.6(GLI3):c.3486G>A (p.Trp1162Ter)	rs2128705596
NM_000168.6(GLI3):c.3540_3550del (p.Pro1181fs)	rs2128705546
NM_000168.6(GLI3):c.3624dup (p.Pro1209fs)	rs1787139771
NM_000168.6(GLI3):c.3739C>T (p.Gln1247Ter)
NM_000168.6(GLI3):c.3771del (p.Leu1258fs)	rs1554304508
NM_000168.6(GLI3):c.3828del (p.Gln1277fs)
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer)	rs1562657370
NM_000168.6(GLI3):c.4194_4204del (p.Arg1399fs)	rs2128705010
NM_000168.6(GLI3):c.4217C>G (p.Ser1406Ter)	rs2128705002
NM_000168.6(GLI3):c.4317C>A (p.Tyr1439Ter)	rs1562656975
NM_000168.6(GLI3):c.4383_4387del (p.Ile1462fs)	rs2128704900
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)	rs1057520063

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