ClinVar Miner

List of variants reported as likely pathogenic for Multiple congenital exostosis by Invitae

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NC_000008.10:g.(?_118831895)_(118834856_?)del
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1165-2A>G
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro) rs1817879832
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser) rs1817876107
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg) rs1817867776

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