ClinVar Miner

List of variants reported as benign for Multiple congenital exostosis by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000127.3(EXT1):c.-722T>C rs192302720 0.06363
NM_000127.3(EXT1):c.-266C>T rs76805972 0.04072
NM_000127.3(EXT1):c.-635C>T rs188740055 0.02060
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_000127.3(EXT1):c.-509C>G rs78824154 0.01491
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.-324C>G rs144282710 0.00224
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
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_000127.3(EXT1):c.-500T>G rs372210548 0.00009

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