ClinVar Miner

List of variants in gene EXT2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1305+254G>C rs12791572 0.03058
NM_207122.2(EXT2):c.-31+474G>A rs112082531 0.02206
NM_207122.2(EXT2):c.-30-80A>C rs75844681 0.01471
NM_207122.2(EXT2):c.-31+657G>A rs74980806 0.01266
NM_207122.2(EXT2):c.940-203A>G rs111293320 0.01038
NM_207122.2(EXT2):c.1936-179C>T rs117782883 0.00722
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1496-204_1496-195del
NM_207122.2(EXT2):c.1496-209del
NM_207122.2(EXT2):c.1936-134GT[10] rs3832748
NM_207122.2(EXT2):c.626+262C>G rs76685253
NM_207122.2(EXT2):c.940-79A>C

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