List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2E

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

Total variants: 214

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)	rs115928999	0.00262
NM_000232.5(SGCB):c.768C>T (p.Ile256=)	rs149121189	0.00039
NM_000232.5(SGCB):c.495C>T (p.Asp165=)	rs142801720	0.00025
NM_000232.5(SGCB):c.18G>A (p.Ala6=)	rs998759536	0.00014
NM_000232.5(SGCB):c.430-15C>A	rs372157108	0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	rs200761715	0.00012
NM_000232.5(SGCB):c.33+10T>C	rs1040348203	0.00011
NM_000232.5(SGCB):c.105G>A (p.Glu35=)	rs1214745536	0.00006
NM_000232.5(SGCB):c.519G>A (p.Pro173=)	rs755701680	0.00005
NM_000232.5(SGCB):c.282A>G (p.Pro94=)	rs746957769	0.00004
NM_000232.5(SGCB):c.33+16C>A	rs765157791	0.00004
NM_000232.5(SGCB):c.369T>C (p.Tyr123=)	rs371706268	0.00004
NM_000232.5(SGCB):c.429+24G>T	rs367761233	0.00004
NM_000232.5(SGCB):c.430-4G>T	rs989155710	0.00004
NM_000232.5(SGCB):c.708C>T (p.Gly236=)	rs770295146	0.00004
NM_000232.5(SGCB):c.744G>A (p.Glu248=)	rs778608103	0.00004
NM_000232.5(SGCB):c.789C>T (p.Val263=)	rs371225165	0.00004
NM_000232.5(SGCB):c.795C>G (p.Thr265=)	rs1490370240	0.00004
NM_000232.5(SGCB):c.939C>T (p.Pro313=)	rs375438506	0.00004
NM_000232.5(SGCB):c.27A>C (p.Ala9=)	rs1170618819	0.00003
NM_000232.5(SGCB):c.429+13A>G	rs759134929	0.00003
NM_000232.5(SGCB):c.882G>A (p.Thr294=)	rs572922347	0.00003
NM_000232.5(SGCB):c.327A>G (p.Arg109=)	rs767994334	0.00002
NM_000232.5(SGCB):c.498C>T (p.Ile166=)	rs748602445	0.00002
NM_000232.5(SGCB):c.558T>G (p.Thr186=)	rs200167048	0.00002
NM_000232.5(SGCB):c.933C>T (p.Asp311=)	rs780557395	0.00002
NM_000232.5(SGCB):c.129A>T (p.Gly43=)	rs1281862962	0.00001
NM_000232.5(SGCB):c.138G>A (p.Pro46=)	rs532448056	0.00001
NM_000232.5(SGCB):c.204G>T (p.Val68=)	rs1560568801	0.00001
NM_000232.5(SGCB):c.264C>T (p.Ala88=)	rs763525400	0.00001
NM_000232.5(SGCB):c.318C>A (p.Gly106=)	rs1335790481	0.00001
NM_000232.5(SGCB):c.33+8A>G	rs1476524603	0.00001
NM_000232.5(SGCB):c.345C>T (p.Asp115=)	rs886043228	0.00001
NM_000232.5(SGCB):c.390G>A (p.Arg130=)	rs781679527	0.00001
NM_000232.5(SGCB):c.429+19T>C	rs1737197744	0.00001
NM_000232.5(SGCB):c.465A>G (p.Val155=)	rs774413452	0.00001
NM_000232.5(SGCB):c.540C>T (p.Phe180=)	rs1235498684	0.00001
NM_000232.5(SGCB):c.543C>T (p.Ser181=)	rs757115090	0.00001
NM_000232.5(SGCB):c.738T>C (p.Asn246=)	rs1737145890	0.00001
NM_000232.5(SGCB):c.753+8T>G	rs781325990	0.00001
NM_000232.5(SGCB):c.754-13A>G	rs1225812140	0.00001
NM_000232.5(SGCB):c.754-16A>G	rs768400028	0.00001
NM_000232.5(SGCB):c.754-5A>G	rs946854788	0.00001
NM_000232.5(SGCB):c.792C>T (p.Ser264=)	rs1476325500	0.00001
NM_000232.5(SGCB):c.798C>T (p.Thr266=)	rs182784793	0.00001
NM_000232.5(SGCB):c.834T>C (p.Gly278=)	rs772207314	0.00001
NM_000232.5(SGCB):c.852C>T (p.Arg284=)	rs1179417557	0.00001
NM_000232.5(SGCB):c.861C>G (p.Leu287=)	rs1021753591	0.00001
NM_000232.5(SGCB):c.873T>C (p.Ala291=)	rs1240221402	0.00001
NM_000232.5(SGCB):c.879G>A (p.Gly293=)	rs1204832968	0.00001
NM_000232.5(SGCB):c.9A>G (p.Ala3=)	rs886043810	0.00001
NM_000232.5(SGCB):c.111C>T (p.Asn37=)	rs2109376000
NM_000232.5(SGCB):c.120T>C (p.Phe40=)
NM_000232.5(SGCB):c.126T>C (p.Ala42=)
NM_000232.5(SGCB):c.12G>A (p.Ala4=)
NM_000232.5(SGCB):c.12G>C (p.Ala4=)	rs758245081
NM_000232.5(SGCB):c.12G>T (p.Ala4=)	rs758245081
NM_000232.5(SGCB):c.132C>T (p.Tyr44=)
NM_000232.5(SGCB):c.141T>A (p.Ile47=)
NM_000232.5(SGCB):c.150T>C (p.Asp50=)	rs765583649
NM_000232.5(SGCB):c.156C>T (p.Leu52=)	rs1553940675
NM_000232.5(SGCB):c.159C>T (p.His53=)
NM_000232.5(SGCB):c.15G>A (p.Ala5=)
NM_000232.5(SGCB):c.169T>C (p.Leu57=)	rs962846702
NM_000232.5(SGCB):c.21G>A (p.Ala7=)
NM_000232.5(SGCB):c.222C>T (p.Ile74=)
NM_000232.5(SGCB):c.243+11G>A
NM_000232.5(SGCB):c.243+11G>C
NM_000232.5(SGCB):c.244-10T>G	rs2109372120
NM_000232.5(SGCB):c.244-12G>A
NM_000232.5(SGCB):c.244-14G>A
NM_000232.5(SGCB):c.244-17C>T
NM_000232.5(SGCB):c.244-19G>C
NM_000232.5(SGCB):c.244-9C>G
NM_000232.5(SGCB):c.249A>C (p.Thr83=)	rs565862702
NM_000232.5(SGCB):c.249A>G (p.Thr83=)	rs565862702
NM_000232.5(SGCB):c.249A>T (p.Thr83=)	rs565862702
NM_000232.5(SGCB):c.24T>C (p.Ala8=)	rs2109380841
NM_000232.5(SGCB):c.252T>C (p.Leu84=)
NM_000232.5(SGCB):c.258T>C (p.Ile86=)	rs2109372068
NM_000232.5(SGCB):c.264C>G (p.Ala88=)
NM_000232.5(SGCB):c.267G>A (p.Val89=)	rs2109372042
NM_000232.5(SGCB):c.273C>T (p.Arg91=)	rs776434241
NM_000232.5(SGCB):c.27A>G (p.Ala9=)
NM_000232.5(SGCB):c.285T>C (p.Asn95=)
NM_000232.5(SGCB):c.288C>T (p.Gly96=)	rs2109372010
NM_000232.5(SGCB):c.315T>C (p.Ser105=)	rs2109371980
NM_000232.5(SGCB):c.318C>G (p.Gly106=)	rs1335790481
NM_000232.5(SGCB):c.318C>T (p.Gly106=)
NM_000232.5(SGCB):c.319C>T (p.Leu107=)
NM_000232.5(SGCB):c.33+11A>G
NM_000232.5(SGCB):c.33+12C>A
NM_000232.5(SGCB):c.33+12C>T
NM_000232.5(SGCB):c.33+13C>A
NM_000232.5(SGCB):c.33+13C>G
NM_000232.5(SGCB):c.33+13C>T
NM_000232.5(SGCB):c.33+15C>T
NM_000232.5(SGCB):c.33+16C>T	rs765157791
NM_000232.5(SGCB):c.33+17G>C
NM_000232.5(SGCB):c.33+18C>T
NM_000232.5(SGCB):c.33+7G>A	rs2109380783
NM_000232.5(SGCB):c.33+9G>C	rs886043257
NM_000232.5(SGCB):c.333G>A (p.Lys111=)
NM_000232.5(SGCB):c.339A>G (p.Val113=)
NM_000232.5(SGCB):c.34-13A>G
NM_000232.5(SGCB):c.34-15G>A
NM_000232.5(SGCB):c.34-18G>A
NM_000232.5(SGCB):c.34-20A>G
NM_000232.5(SGCB):c.34-9C>A	rs886059439
NM_000232.5(SGCB):c.357C>T (p.Ile119=)	rs2109371913
NM_000232.5(SGCB):c.360C>T (p.His120=)
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)	rs398123263
NM_000232.5(SGCB):c.372A>G (p.Lys124=)
NM_000232.5(SGCB):c.378A>G (p.Thr126=)
NM_000232.5(SGCB):c.403T>C (p.Leu135=)	rs1737198985
NM_000232.5(SGCB):c.405G>A (p.Leu135=)	rs1655158646
NM_000232.5(SGCB):c.408C>T (p.Val136=)	rs2109371822
NM_000232.5(SGCB):c.417C>A (p.Gly139=)
NM_000232.5(SGCB):c.426G>A (p.Gln142=)
NM_000232.5(SGCB):c.429+12C>T
NM_000232.5(SGCB):c.429+15T>G
NM_000232.5(SGCB):c.429+17A>T
NM_000232.5(SGCB):c.429+18C>A	rs2109371767
NM_000232.5(SGCB):c.42C>T (p.Ser14=)
NM_000232.5(SGCB):c.430-10T>C	rs1553940172
NM_000232.5(SGCB):c.430-13_430-12del
NM_000232.5(SGCB):c.430-13del
NM_000232.5(SGCB):c.430-16A>G
NM_000232.5(SGCB):c.430-17A>G
NM_000232.5(SGCB):c.430-4G>A
NM_000232.5(SGCB):c.430-7T>C	rs2109371163
NM_000232.5(SGCB):c.430-8T>C
NM_000232.5(SGCB):c.456G>A (p.Lys152=)	rs2109371116
NM_000232.5(SGCB):c.459C>T (p.Leu153=)	rs1737178749
NM_000232.5(SGCB):c.45T>C (p.Asn15=)
NM_000232.5(SGCB):c.483T>C (p.Ser161=)	rs759737437
NM_000232.5(SGCB):c.519G>C (p.Pro173=)
NM_000232.5(SGCB):c.51T>C (p.Pro17=)	rs964563108
NM_000232.5(SGCB):c.520A>C (p.Arg174=)
NM_000232.5(SGCB):c.522G>A (p.Arg174=)
NM_000232.5(SGCB):c.531T>C (p.Asn177=)	rs2109371002
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu)	rs536728645
NM_000232.5(SGCB):c.546A>G (p.Thr182=)
NM_000232.5(SGCB):c.571T>C (p.Leu191=)
NM_000232.5(SGCB):c.579T>C (p.Ser193=)	rs2109370917
NM_000232.5(SGCB):c.582A>C (p.Gly194=)
NM_000232.5(SGCB):c.582A>G (p.Gly194=)
NM_000232.5(SGCB):c.597T>C (p.Asn199=)	rs1737174455
NM_000232.5(SGCB):c.612T>C (p.Ser204=)
NM_000232.5(SGCB):c.621+14G>T
NM_000232.5(SGCB):c.621+14del
NM_000232.5(SGCB):c.621+15C>T
NM_000232.5(SGCB):c.621+16T>C
NM_000232.5(SGCB):c.621+18del
NM_000232.5(SGCB):c.621+20T>A
NM_000232.5(SGCB):c.621+9T>C	rs1578125562
NM_000232.5(SGCB):c.622-10A>G
NM_000232.5(SGCB):c.622-12T>G
NM_000232.5(SGCB):c.622-16T>C
NM_000232.5(SGCB):c.622-17G>C
NM_000232.5(SGCB):c.622-17G>T
NM_000232.5(SGCB):c.622-20C>A
NM_000232.5(SGCB):c.622-30_622-19del	rs2109370138
NM_000232.5(SGCB):c.627C>T (p.Thr209=)	rs1578125189
NM_000232.5(SGCB):c.630C>T (p.Ser210=)	rs2109370066
NM_000232.5(SGCB):c.636T>C (p.Ala212=)
NM_000232.5(SGCB):c.639C>T (p.Thr213=)	rs535718115
NM_000232.5(SGCB):c.63C>T (p.Ser21=)
NM_000232.5(SGCB):c.660T>C (p.Val220=)	rs2109370022
NM_000232.5(SGCB):c.675T>C (p.Ile225=)
NM_000232.5(SGCB):c.678G>A (p.Val226=)	rs2109370000
NM_000232.5(SGCB):c.681T>A (p.Arg227=)
NM_000232.5(SGCB):c.6G>A (p.Ala2=)
NM_000232.5(SGCB):c.6G>C (p.Ala2=)
NM_000232.5(SGCB):c.6G>T (p.Ala2=)
NM_000232.5(SGCB):c.735T>C (p.Gly245=)
NM_000232.5(SGCB):c.753+19G>A
NM_000232.5(SGCB):c.753+20C>T
NM_000232.5(SGCB):c.753+7A>G	rs2109369879
NM_000232.5(SGCB):c.753+7A>T	rs2109369879
NM_000232.5(SGCB):c.754-13A>C
NM_000232.5(SGCB):c.754-14T>A
NM_000232.5(SGCB):c.754-7C>T
NM_000232.5(SGCB):c.754-8C>T	rs2110209677
NM_000232.5(SGCB):c.75G>A (p.Lys25=)	rs2109376069
NM_000232.5(SGCB):c.765C>T (p.Ile255=)
NM_000232.5(SGCB):c.771A>C (p.Leu257=)	rs2110209659
NM_000232.5(SGCB):c.777A>T (p.Gly259=)	rs758559559
NM_000232.5(SGCB):c.780T>C (p.Ser260=)
NM_000232.5(SGCB):c.783G>C (p.Val261=)
NM_000232.5(SGCB):c.78T>C (p.Ala26=)
NM_000232.5(SGCB):c.798C>A (p.Thr266=)	rs182784793
NM_000232.5(SGCB):c.804A>C (p.Leu268=)	rs1737023796
NM_000232.5(SGCB):c.813C>T (p.Ser271=)	rs2110209615
NM_000232.5(SGCB):c.829T>C (p.Leu277=)	rs745818288
NM_000232.5(SGCB):c.858G>A (p.Lys286=)	rs2110209580
NM_000232.5(SGCB):c.87A>G (p.Arg29=)
NM_000232.5(SGCB):c.882G>C (p.Thr294=)	rs572922347
NM_000232.5(SGCB):c.885C>G (p.Leu295=)
NM_000232.5(SGCB):c.885C>T (p.Leu295=)
NM_000232.5(SGCB):c.88A>C (p.Arg30=)	rs2109376040
NM_000232.5(SGCB):c.891G>A (p.Lys297=)
NM_000232.5(SGCB):c.903C>T (p.Thr301=)
NM_000232.5(SGCB):c.906C>T (p.Ser302=)	rs1737020220
NM_000232.5(SGCB):c.90G>A (p.Arg30=)	rs11541942
NM_000232.5(SGCB):c.921C>T (p.Cys307=)
NM_000232.5(SGCB):c.930A>C (p.Ser310=)	rs145108543
NM_000232.5(SGCB):c.930A>G (p.Ser310=)	rs145108543
NM_000232.5(SGCB):c.936C>T (p.Asn312=)	rs1184617433
NM_000232.5(SGCB):c.945A>G (p.Gly315=)	rs2110209464
NM_000232.5(SGCB):c.954T>C (p.His318=)
NM_000232.5(SGCB):c.957A>G (p.Ter319=)
NM_000232.5(SGCB):c.96C>A (p.Val32=)	rs2109376016
NM_000232.5(SGCB):c.9A>T (p.Ala3=)

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