ClinVar Miner

List of variants reported as likely benign for Exostoses, multiple, type 1 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000127.3(EXT1):c.1284+25G>A rs375754024 0.00010
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001

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