ClinVar Miner

List of variants in gene SGCG reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2C

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 70
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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.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
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.(?_23869534)_(23869646_?)del
NC_000013.10:g.(?_23898487)_(23898680_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)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.158T>C (p.Leu53Pro) rs781760379
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)
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.333del (p.Thr112fs) rs1593197637
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.505+2T>C rs1593216248
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.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.528_534del (p.His177fs)
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.582dup (p.Glu195fs)
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.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.702+1G>A rs1555248000
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)
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.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.82del (p.Ile28fs)
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)

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