ClinVar Miner

List of variants studied for Multiple congenital exostosis by Illumina Laboratory Services, Illumina

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Total variants: 50
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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.-678C>T rs886062644 0.00127
NM_000127.3(EXT1):c.-655C>A rs886062642 0.00084
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.-731G>A rs886062645 0.00048
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000127.3(EXT1):c.-358T>C rs886062639 0.00037
NM_000127.3(EXT1):c.-642G>A rs534171475 0.00032
NM_000127.3(EXT1):c.*151T>C rs751063786 0.00031
NM_000127.3(EXT1):c.-113G>C rs533303304 0.00029
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
NM_000127.3(EXT1):c.-500T>G rs372210548 0.00009
NM_000127.3(EXT1):c.-536G>A rs780662536 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000127.3(EXT1):c.-667C>G rs886062643 0.00007
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 0.00006
NM_000127.3(EXT1):c.-57G>C rs886062636 0.00005
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00002
NM_000127.3(EXT1):c.*182A>C rs949394800 0.00001
NM_000127.3(EXT1):c.-717G>C rs1381790284 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.*146G>C rs886062634
NM_000127.3(EXT1):c.*82C>G rs886062635
NM_000127.3(EXT1):c.-129A>G rs886062637
NM_000127.3(EXT1):c.-139A>G rs886062638
NM_000127.3(EXT1):c.-16G>A rs1817895495
NM_000127.3(EXT1):c.-612G>A rs886062640
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.2205T>C (p.Ile735=) rs1823135353
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser) rs1817878624
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu) rs1436385815

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