ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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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