ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy by Myriad Genetics, Inc.

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter) rs1669918554
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter) rs1669632177
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter) rs1670695099
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter) rs1460602961
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter) rs1670693281
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter) rs11552518
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter) rs1670589674
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter) rs1670587952
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
NM_000182.5(HADHA):c.761del (p.Lys254fs)
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter) rs1670172615
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter) rs1670172561
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter) rs1670128490
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
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.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
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.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
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.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
NM_001164508.2(NEB):c.11529del (p.His3844fs)
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
NM_001164508.2(NEB):c.4999del (p.His1667fs)
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
NM_001164508.2(NEB):c.8111_8112del (p.Asp2704fs)
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
NM_001164508.2(NEB):c.9662del (p.His3221fs)
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)

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