ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2C by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NC_000013.10:g.(?_23755215)_(23853627_?)del
NC_000013.10:g.(?_23777834)_(23824876_?)del
NC_000013.10:g.(?_23808730)_(23808871_?)del
NC_000013.10:g.(?_23808791)_(23810016_?)del
NC_000013.10:g.(?_23824749)_(23853637_?)del
NC_000013.10:g.(?_23853478)_(23869646_?)del
NC_000013.10:g.(?_23853478)_(23985378_?)del
NC_000013.10:g.(?_23869534)_(23869646_?)del
NC_000013.10:g.(?_23894756)_(24463459_?)del
NC_000013.10:g.(?_23898487)_(23898680_?)del
NC_000013.10:g.(?_23898487)_(24463459_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)del
NC_000013.11:g.(?_23093196)_(23203899_?)del
NC_000013.11:g.(?_23093196)_(23411249_?)del
NC_000013.11:g.(?_23093196)_(23411259_?)del
NC_000013.11:g.(?_23203675)_(23279498_?)del
NC_000013.11:g.(?_23203685)_(23203899_?)del
NC_000013.11:g.(?_23320627)_(23320770_?)del
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) rs760108586
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter) rs2137501447
NM_000231.3(SGCG):c.152del (p.Asn50_Leu51insTer)
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) rs1351510337
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2137501542
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg) rs2541899936
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter) rs1474297447
NM_000231.3(SGCG):c.230dup (p.Leu78fs) rs1432706111
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter) rs2541900264
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-2A>G rs1555240119
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
NM_000231.3(SGCG):c.361del (p.Glu121fs) rs1879928532
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.524_527del (p.Phe175fs) rs2137644682
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.528_534del (p.His177fs) rs2542029970
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer) rs1180551378
NM_000231.3(SGCG):c.549dup (p.Val184fs) rs2137644772
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs) rs2137528211
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) rs1325816562
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer) rs2137528297
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) rs1883154291
NM_000231.3(SGCG):c.735del (p.Lys246fs) rs797044783
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.775_776del (p.Gln259fs) rs2137534154
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.82del (p.Ile28fs) rs2528278649
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs) rs2500525027

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