ClinVar Miner

List of variants in gene EXT2, LOC130005598 studied for Exostoses, multiple, type 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_207122.1(EXT2):c.-311G>A rs3923808 0.50004
NM_207122.1(EXT2):c.-331T>C rs10458911 0.25844
NM_207122.2(EXT2):c.-31+7G>T rs58861092 0.08791
NM_207122.2(EXT2):c.-148G>A rs115238130 0.00479
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404

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