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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 137

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HGVS	dbSNP	gnomAD frequency
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)	rs114363936	0.00703
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)	rs185594460	0.00151
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)	rs376909665	0.00026
NM_001101426.4(CRPPA):c.684+12G>C	rs376232862	0.00022
NM_001101426.4(CRPPA):c.531C>T (p.His177=)	rs376195897	0.00019
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)	rs761842188	0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)	rs763209907	0.00011
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=)	rs760178734	0.00007
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)	rs201334104	0.00007
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=)	rs886042759	0.00005
NM_001101426.4(CRPPA):c.42G>T (p.Pro14=)	rs1332918116	0.00005
NM_001101426.4(CRPPA):c.789+9G>A	rs375132134	0.00004
NM_001101426.4(CRPPA):c.1120-10T>C	rs200836986	0.00003
NM_001101426.4(CRPPA):c.1251+11T>C	rs199790485	0.00003
NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)	rs375514450	0.00003
NM_001101426.4(CRPPA):c.1120-19T>A	rs773390529	0.00002
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=)	rs1032859096	0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)	rs368815582	0.00002
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)	rs886043287	0.00002
NM_001101426.4(CRPPA):c.594C>T (p.Cys198=)	rs756333932	0.00002
NM_001101426.4(CRPPA):c.789+13A>C	rs773343225	0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)	rs766874330	0.00002
NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=)	rs1418861315	0.00001
NM_001101426.4(CRPPA):c.1120-4G>A	rs886042445	0.00001
NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=)	rs1403975634	0.00001
NM_001101426.4(CRPPA):c.1146A>G (p.Val382=)	rs746837359	0.00001
NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=)	rs769147263	0.00001
NM_001101426.4(CRPPA):c.1251+19T>A	rs751907599	0.00001
NM_001101426.4(CRPPA):c.12G>A (p.Gly4=)	rs1284386964	0.00001
NM_001101426.4(CRPPA):c.1305A>G (p.Ser435=)	rs1027005660	0.00001
NM_001101426.4(CRPPA):c.189C>T (p.Pro63=)	rs1788325301	0.00001
NM_001101426.4(CRPPA):c.231C>T (p.Ile77=)	rs1271300165	0.00001
NM_001101426.4(CRPPA):c.240C>T (p.Thr80=)	rs1281024369	0.00001
NM_001101426.4(CRPPA):c.257+10C>A	rs1391659845	0.00001
NM_001101426.4(CRPPA):c.257+17C>T	rs895474080	0.00001
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=)	rs765435429	0.00001
NM_001101426.4(CRPPA):c.498C>A (p.Val166=)	rs774132708	0.00001
NM_001101426.4(CRPPA):c.570C>T (p.Val190=)	rs1170483329	0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)	rs532057629	0.00001
NM_001101426.4(CRPPA):c.765A>G (p.Val255=)	rs372514498	0.00001
NM_001101426.4(CRPPA):c.836-9T>A	rs754223084	0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)	rs148054819	0.00001
NM_001101426.4(CRPPA):c.909A>G (p.Glu303=)	rs778599626	0.00001
NM_001101426.4(CRPPA):c.934-9T>C	rs771988779	0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=)	rs780620823	0.00001
NM_001101426.4(CRPPA):c.951T>C (p.Ser317=)	rs1188081832	0.00001
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=)	rs370052768	0.00001
NM_001101426.4(CRPPA):c.1008C>T (p.Tyr336=)	rs1783720072
NM_001101426.4(CRPPA):c.1017T>A (p.Val339=)	rs773884120
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=)	rs773884120
NM_001101426.4(CRPPA):c.1026+15A>G
NM_001101426.4(CRPPA):c.1027-18A>G
NM_001101426.4(CRPPA):c.108C>G (p.Ala36=)	rs1319812253
NM_001101426.4(CRPPA):c.1119+13A>G	rs2128412301
NM_001101426.4(CRPPA):c.1119+19G>T	rs755221887
NM_001101426.4(CRPPA):c.1120-12T>C	rs1331188356
NM_001101426.4(CRPPA):c.1120-17T>C
NM_001101426.4(CRPPA):c.1120-4G>C	rs886042445
NM_001101426.4(CRPPA):c.1120-7T>C	rs2128398361
NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)	rs571551238
NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)
NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)
NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=)	rs2128398327
NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=)	rs769147263
NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)
NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)
NM_001101426.4(CRPPA):c.123G>A (p.Gly41=)	rs761842188
NM_001101426.4(CRPPA):c.1251+17T>A	rs2128398264
NM_001101426.4(CRPPA):c.1251+7A>T
NM_001101426.4(CRPPA):c.1257T>C (p.Asp419=)	rs2128361098
NM_001101426.4(CRPPA):c.1263G>A (p.Lys421=)
NM_001101426.4(CRPPA):c.1269G>A (p.Gln423=)
NM_001101426.4(CRPPA):c.1320A>G (p.Arg440=)	rs1474282728
NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=)	rs1424229425
NM_001101426.4(CRPPA):c.138C>G (p.Ala46=)	rs1162623078
NM_001101426.4(CRPPA):c.159C>A (p.Ala53=)
NM_001101426.4(CRPPA):c.246G>A (p.Gln82=)	rs2128321451
NM_001101426.4(CRPPA):c.257+11G>A
NM_001101426.4(CRPPA):c.257+17C>A	rs895474080
NM_001101426.4(CRPPA):c.257+7C>G
NM_001101426.4(CRPPA):c.257+8G>A	rs966346002
NM_001101426.4(CRPPA):c.258-18C>T
NM_001101426.4(CRPPA):c.258-19A>G	rs747712011
NM_001101426.4(CRPPA):c.258-8C>T	rs750772320
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=)	rs374684209
NM_001101426.4(CRPPA):c.327T>A (p.Ile109=)	rs2128318470
NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)
NM_001101426.4(CRPPA):c.360C>G (p.Val120=)	rs183141256
NM_001101426.4(CRPPA):c.381C>T (p.His127=)
NM_001101426.4(CRPPA):c.384G>A (p.Arg128=)	rs759742555
NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)
NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=)	rs541412708
NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)
NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)
NM_001101426.4(CRPPA):c.45T>A (p.Gly15=)
NM_001101426.4(CRPPA):c.534+18A>G	rs2128318410
NM_001101426.4(CRPPA):c.535-20T>G	rs2128312096
NM_001101426.4(CRPPA):c.561A>T (p.Val187=)	rs376375569
NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)
NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)
NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)
NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)
NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)
NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)
NM_001101426.4(CRPPA):c.684+11G>A
NM_001101426.4(CRPPA):c.684+12G>A	rs376232862
NM_001101426.4(CRPPA):c.684+13G>A
NM_001101426.4(CRPPA):c.684+14C>G
NM_001101426.4(CRPPA):c.684+16T>C
NM_001101426.4(CRPPA):c.685-25GTT[4]	rs142647500
NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)
NM_001101426.4(CRPPA):c.723G>A (p.Leu241=)	rs754775519
NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)
NM_001101426.4(CRPPA):c.75C>T (p.Asp25=)	rs1292034515
NM_001101426.4(CRPPA):c.789+10A>T
NM_001101426.4(CRPPA):c.789+89A>C
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)	rs754348253
NM_001101426.4(CRPPA):c.816G>T (p.Ala272=)	rs754348253
NM_001101426.4(CRPPA):c.835+14T>G
NM_001101426.4(CRPPA):c.836-16T>A
NM_001101426.4(CRPPA):c.836-16_836-15insC
NM_001101426.4(CRPPA):c.861A>C (p.Val287=)
NM_001101426.4(CRPPA):c.864T>C (p.Val288=)
NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)
NM_001101426.4(CRPPA):c.915G>A (p.Val305=)	rs1466053365
NM_001101426.4(CRPPA):c.934-16T>C
NM_001101426.4(CRPPA):c.934-4C>A
NM_001101426.4(CRPPA):c.934-5A>G	rs886043337
NM_001101426.4(CRPPA):c.934-6T>A
NM_001101426.4(CRPPA):c.945C>T (p.Val315=)	rs1554300356
NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)
NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)
NM_001101426.4(CRPPA):c.994T>C (p.Leu332=)	rs2128412518
NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)

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