ClinVar Miner

List of variants in gene combination EXT2, LOC130005598 reported as benign for connective tissue neoplasm

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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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.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404

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