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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 173

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)	rs114160429	0.00101
NM_000231.3(SGCG):c.196-16T>C	rs370930080	0.00032
NM_000231.3(SGCG):c.438C>T (p.Asp146=)	rs144497243	0.00014
NM_000231.3(SGCG):c.354A>G (p.Ser118=)	rs376184429	0.00012
NM_000231.3(SGCG):c.102C>T (p.Arg34=)	rs140810408	0.00011
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)	rs776289036	0.00009
NM_000231.3(SGCG):c.506-7T>G	rs774582375	0.00009
NM_000231.3(SGCG):c.564G>A (p.Pro188=)	rs367595212	0.00008
NM_000231.3(SGCG):c.414A>G (p.Gln138=)	rs770596449	0.00005
NM_000231.3(SGCG):c.303A>C (p.Ser101=)	rs144277094	0.00004
NM_000231.3(SGCG):c.642C>T (p.His214=)	rs528994151	0.00004
NM_000231.3(SGCG):c.708G>A (p.Val236=)	rs899136360	0.00004
NM_000231.3(SGCG):c.345G>A (p.Ala115=)	rs1800352	0.00003
NM_000231.3(SGCG):c.753G>A (p.Thr251=)	rs748332364	0.00003
NM_000231.3(SGCG):c.180G>A (p.Val60=)	rs919571338	0.00002
NM_000231.3(SGCG):c.324C>A (p.Thr108=)	rs747220624	0.00002
NM_000231.3(SGCG):c.333G>A (p.Val111=)	rs775265377	0.00002
NM_000231.3(SGCG):c.399A>G (p.Val133=)	rs747909634	0.00002
NM_000231.3(SGCG):c.558C>T (p.Ala186=)	rs766503990	0.00002
NM_000231.3(SGCG):c.660G>A (p.Ala220=)	rs550268354	0.00002
NM_000231.3(SGCG):c.735C>T (p.Pro245=)	rs373785384	0.00002
NM_000231.3(SGCG):c.112T>C (p.Leu38=)	rs1800349	0.00001
NM_000231.3(SGCG):c.120T>C (p.Val40=)	rs1022001256	0.00001
NM_000231.3(SGCG):c.196-10T>G	rs759238812	0.00001
NM_000231.3(SGCG):c.196-6T>A	rs1165407566	0.00001
NM_000231.3(SGCG):c.196-9T>G	rs1218168404	0.00001
NM_000231.3(SGCG):c.234G>A (p.Leu78=)	rs1879241633	0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=)	rs149595403	0.00001
NM_000231.3(SGCG):c.297+10T>C	rs1879245855	0.00001
NM_000231.3(SGCG):c.315A>G (p.Leu105=)	rs779550455	0.00001
NM_000231.3(SGCG):c.318A>G (p.Gln106=)	rs371622125	0.00001
NM_000231.3(SGCG):c.477G>A (p.Val159=)	rs1475965743	0.00001
NM_000231.3(SGCG):c.501A>T (p.Val167=)	rs560640452	0.00001
NM_000231.3(SGCG):c.506-6G>A	rs1347438845	0.00001
NM_000231.3(SGCG):c.522T>C (p.Leu174=)	rs146679977	0.00001
NM_000231.3(SGCG):c.540G>A (p.Glu180=)	rs1384341355	0.00001
NM_000231.3(SGCG):c.578+7A>G	rs1881872240	0.00001
NM_000231.3(SGCG):c.578+8T>C	rs1359141230	0.00001
NM_000231.3(SGCG):c.579-6T>C	rs753444436	0.00001
NM_000231.3(SGCG):c.615C>A (p.Ala205=)	rs142409090	0.00001
NM_000231.3(SGCG):c.645T>A (p.Ala215=)	rs763278303	0.00001
NM_000231.3(SGCG):c.66T>C (p.Tyr22=)	rs376410504	0.00001
NM_000231.3(SGCG):c.690T>C (p.Ser230=)	rs875989949	0.00001
NM_000231.3(SGCG):c.702+15A>G	rs1220492352	0.00001
NM_000231.3(SGCG):c.786C>T (p.Tyr262=)	rs759316719	0.00001
NM_000231.3(SGCG):c.810G>C (p.Gly270=)	rs1268630904	0.00001
NM_000231.3(SGCG):c.831C>T (p.Ala277=)	rs754112406	0.00001
NM_000231.3(SGCG):c.87T>C (p.Tyr29=)	rs1196026821	0.00001
NM_000231.3(SGCG):c.111C>T (p.Tyr37=)
NM_000231.3(SGCG):c.129A>G (p.Leu43=)	rs1555234797
NM_000231.3(SGCG):c.138C>T (p.Ile46=)
NM_000231.3(SGCG):c.141C>T (p.Leu47=)	rs1877869527
NM_000231.3(SGCG):c.195+15T>G
NM_000231.3(SGCG):c.195+19T>C
NM_000231.3(SGCG):c.196-10T>C	rs759238812
NM_000231.3(SGCG):c.196-10_196-6del
NM_000231.3(SGCG):c.196-11T>C	rs1879238085
NM_000231.3(SGCG):c.196-19T>C
NM_000231.3(SGCG):c.196-9T>C
NM_000231.3(SGCG):c.213G>A (p.Leu71=)
NM_000231.3(SGCG):c.237C>G (p.Arg79=)
NM_000231.3(SGCG):c.237C>T (p.Arg79=)
NM_000231.3(SGCG):c.240G>A (p.Leu80=)	rs1228186934
NM_000231.3(SGCG):c.259T>C (p.Leu87=)	rs1174403532
NM_000231.3(SGCG):c.264C>T (p.Phe88=)	rs2137545196
NM_000231.3(SGCG):c.268T>C (p.Leu90=)
NM_000231.3(SGCG):c.273T>C (p.Tyr91=)
NM_000231.3(SGCG):c.27C>T (p.Ala9=)
NM_000231.3(SGCG):c.288C>T (p.His96=)	rs957838468
NM_000231.3(SGCG):c.291C>T (p.Ser97=)
NM_000231.3(SGCG):c.297+13T>G
NM_000231.3(SGCG):c.297+14_297+15del
NM_000231.3(SGCG):c.297+16G>A
NM_000231.3(SGCG):c.297+17A>G
NM_000231.3(SGCG):c.297+18C>G	rs1408311582
NM_000231.3(SGCG):c.298-14A>G
NM_000231.3(SGCG):c.298-16A>G
NM_000231.3(SGCG):c.298-20T>G
NM_000231.3(SGCG):c.298-8C>T
NM_000231.3(SGCG):c.300C>T (p.Asp100=)	rs2137569260
NM_000231.3(SGCG):c.307C>T (p.Leu103=)	rs754191351
NM_000231.3(SGCG):c.312T>C (p.Leu104=)
NM_000231.3(SGCG):c.321A>C (p.Ser107=)	rs777873668
NM_000231.3(SGCG):c.327G>A (p.Gln109=)
NM_000231.3(SGCG):c.336T>C (p.Thr112=)
NM_000231.3(SGCG):c.360G>A (p.Gly120=)
NM_000231.3(SGCG):c.363G>A (p.Glu121=)
NM_000231.3(SGCG):c.375G>A (p.Arg125=)
NM_000231.3(SGCG):c.385+11C>G
NM_000231.3(SGCG):c.385+16T>C
NM_000231.3(SGCG):c.385+20G>T
NM_000231.3(SGCG):c.385+7C>T
NM_000231.3(SGCG):c.386-12T>C	rs781429055
NM_000231.3(SGCG):c.386-15G>A
NM_000231.3(SGCG):c.386-15G>C
NM_000231.3(SGCG):c.386-18A>G
NM_000231.3(SGCG):c.386-8T>A	rs2137617464
NM_000231.3(SGCG):c.399A>C (p.Val133=)
NM_000231.3(SGCG):c.405C>T (p.Val135=)	rs771962643
NM_000231.3(SGCG):c.42C>T (p.Cys14=)	rs1877862967
NM_000231.3(SGCG):c.432C>G (p.Ser144=)
NM_000231.3(SGCG):c.432C>T (p.Ser144=)
NM_000231.3(SGCG):c.441C>G (p.Gly147=)
NM_000231.3(SGCG):c.447A>G (p.Pro149=)	rs2137617646
NM_000231.3(SGCG):c.447A>T (p.Pro149=)
NM_000231.3(SGCG):c.450A>G (p.Leu150=)
NM_000231.3(SGCG):c.456T>C (p.Thr152=)
NM_000231.3(SGCG):c.459A>G (p.Val153=)
NM_000231.3(SGCG):c.501A>G (p.Val167=)
NM_000231.3(SGCG):c.505+14C>G
NM_000231.3(SGCG):c.505+15G>T	rs144143366
NM_000231.3(SGCG):c.505+20A>G	rs2137617840
NM_000231.3(SGCG):c.506-10T>A	rs2137644577
NM_000231.3(SGCG):c.506-15T>C	rs1364745131
NM_000231.3(SGCG):c.506-4T>C
NM_000231.3(SGCG):c.506-5T>C
NM_000231.3(SGCG):c.506-6G>T	rs1347438845
NM_000231.3(SGCG):c.507G>A (p.Gly169=)	rs199905729
NM_000231.3(SGCG):c.507G>T (p.Gly169=)	rs199905729
NM_000231.3(SGCG):c.510T>C (p.Pro170=)
NM_000231.3(SGCG):c.519T>C (p.Ala173=)
NM_000231.3(SGCG):c.552C>A (p.Val184=)
NM_000231.3(SGCG):c.555A>G (p.Arg185=)
NM_000231.3(SGCG):c.558C>A (p.Ala186=)	rs766503990
NM_000231.3(SGCG):c.578+13G>A
NM_000231.3(SGCG):c.578+8T>G	rs1359141230
NM_000231.3(SGCG):c.578+9T>C	rs757092281
NM_000231.3(SGCG):c.578+9_578+20del	rs2137644904
NM_000231.3(SGCG):c.579-10C>G
NM_000231.3(SGCG):c.579-10C>T	rs1232043975
NM_000231.3(SGCG):c.579-11C>T
NM_000231.3(SGCG):c.579-15_579-12dup
NM_000231.3(SGCG):c.579-16C>A
NM_000231.3(SGCG):c.579-16_579-14del
NM_000231.3(SGCG):c.579-7A>C	rs371758035
NM_000231.3(SGCG):c.579-8C>T
NM_000231.3(SGCG):c.579-9T>C	rs2137528009
NM_000231.3(SGCG):c.57G>A (p.Glu19=)
NM_000231.3(SGCG):c.594T>C (p.Thr198=)
NM_000231.3(SGCG):c.615C>T (p.Ala205=)
NM_000231.3(SGCG):c.618A>C (p.Pro206=)
NM_000231.3(SGCG):c.627G>A (p.Val209=)
NM_000231.3(SGCG):c.630T>C (p.His210=)
NM_000231.3(SGCG):c.63G>A (p.Gln21=)	rs1459310219
NM_000231.3(SGCG):c.684T>C (p.Phe228=)	rs1593112867
NM_000231.3(SGCG):c.687T>C (p.His229=)
NM_000231.3(SGCG):c.69C>T (p.Val23=)
NM_000231.3(SGCG):c.702+12C>T
NM_000231.3(SGCG):c.702+9A>C
NM_000231.3(SGCG):c.703-16A>G
NM_000231.3(SGCG):c.703-17C>T
NM_000231.3(SGCG):c.703-19C>G
NM_000231.3(SGCG):c.723T>A (p.Thr241=)
NM_000231.3(SGCG):c.723T>G (p.Thr241=)	rs2137534041
NM_000231.3(SGCG):c.729C>T (p.Cys243=)
NM_000231.3(SGCG):c.750G>C (p.Gly250=)
NM_000231.3(SGCG):c.753G>C (p.Thr251=)
NM_000231.3(SGCG):c.759T>A (p.Gly253=)	rs2137534128
NM_000231.3(SGCG):c.768C>A (p.Gly256=)	rs2137534138
NM_000231.3(SGCG):c.768C>G (p.Gly256=)
NM_000231.3(SGCG):c.771C>T (p.Ser257=)
NM_000231.3(SGCG):c.804A>G (p.Pro268=)
NM_000231.3(SGCG):c.819C>T (p.Tyr273=)	rs1566049887
NM_000231.3(SGCG):c.820C>T (p.Leu274=)
NM_000231.3(SGCG):c.828G>A (p.Val276=)
NM_000231.3(SGCG):c.837G>A (p.Val279=)
NM_000231.3(SGCG):c.846G>A (p.Thr282=)	rs778036404
NM_000231.3(SGCG):c.84T>C (p.Ile28=)	rs1031067187
NM_000231.3(SGCG):c.852G>A (p.Gln284=)
NM_000231.3(SGCG):c.860A>C (p.Asn287Thr)
NM_000231.3(SGCG):c.867C>A (p.Ile289=)
NM_000231.3(SGCG):c.868T>G (p.Cys290Gly)
NM_000231.3(SGCG):c.99G>A (p.Lys33=)	rs778502285

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