ClinVar Miner

List of variants in gene GLI2 reported as pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 2q14.2(chr2:121612201-121734527)x1
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.2286del (p.Ala763fs) rs2105084665
NM_001374353.1(GLI2):c.2353del (p.Leu785fs) rs1683081860
NM_001374353.1(GLI2):c.2748_2794del (p.Leu918fs) rs1558941490
NM_001374353.1(GLI2):c.3616C>T (p.Gln1206Ter) rs1683184393
NM_001374353.1(GLI2):c.457+1G>A rs1448864009
NM_001374353.1(GLI2):c.845+1G>C rs1064793857

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