ClinVar Miner

List of variants in gene EXT2 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1182G>A (p.Trp394Ter) rs1555012835
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1929del (p.Ile644fs) rs1064796192
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.442_455del (p.Asn148fs) rs1590548183
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.56del (p.Lys19fs) rs1085307877
NM_207122.2(EXT2):c.580G>T (p.Gly194Ter) rs886039566
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.795C>G (p.Tyr265Ter)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818

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