ClinVar Miner

List of variants reported as likely pathogenic for X-linked centronuclear myopathy

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862

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