ClinVar Miner

List of variants in gene EXT2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) rs753973135 0.00002
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199

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