ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.11:g.150649717_150649723del
NM_000252.3(MTM1):c.100del (p.Ala34fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) rs2040150416
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) rs2040152678
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-2A>C rs2148510791
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1354-2A>T rs781835307
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) rs2148456078
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.343-1G>A rs2148461695
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) rs2039845128
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679-2A>C
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) rs2039919583
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870

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