List of variants in gene GLI2 reported as likely pathogenic for Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)	rs1553476382
NM_001374353.1(GLI2):c.149-877_238del	rs2467520088
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)	rs778975466
NM_001374353.1(GLI2):c.1905+1G>A	rs1558937172
NM_001374353.1(GLI2):c.254+1G>T	rs1458149576
NM_001374353.1(GLI2):c.2987_2994dup (p.Asp999fs)
NM_001374353.1(GLI2):c.349del (p.Ala117fs)
NM_001374353.1(GLI2):c.693_696dup (p.Leu233fs)

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