ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00312
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00046
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00032
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00015
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00013
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00005
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.2050+1G>A rs768374736 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg) rs777829958 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter) rs747809412 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001130987.2(DYSF):c.1149+5G>A rs1023002894 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5785-7G>A rs753861836 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer) rs1414226750 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NC_000009.11:g.(119449661_119459940)_(119463580_?)del
NC_000009.11:g.(?_119449580)_(119463580_?)del
NC_000013.10:g.(23869627_23894775)_(23894900_23898506)del
NC_000015.9:g.(?_42651697)_(42704516_?)del
NM_000023.4(SGCA):c.86dup (p.His29fs) rs1904986620
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1006T>A (p.Tyr336Asn)
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly) rs777483913
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu) rs863224956
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) rs758058910
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu) rs2548255674
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.966T>A (p.Tyr322Ter) rs2141176797
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter) rs750443041
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.518dup (p.Arg174fs) rs2475221832
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.128dup (p.Asn44fs) rs1573399606
NM_001130987.2(DYSF):c.1450-1G>A
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.2002del (p.Leu668fs) rs2545694567
NM_001130987.2(DYSF):c.2131del (p.His711fs) rs1227708628
NM_001130987.2(DYSF):c.2697+1G>C rs140108514
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2865-20T>G
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3180G>A (p.Trp1060Ter) rs1559186257
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs) rs1574097294
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs) rs886042578
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5276del (p.Arg1759fs)
NM_001130987.2(DYSF):c.5298del (p.Glu1766fs) rs2152951851
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5785-824C>T rs1285082850
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter) rs1356633122
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs) rs1397263011
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_012210.4(TRIM32):c.564T>A (p.Tyr188Ter)
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs) rs2513998901
NM_024301.5(FKRP):c.159_160delinsTT (p.Arg54Trp)
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.329G>C (p.Arg110Pro) rs2054899311
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.201_205del (p.Ser67fs) rs794727745
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.3(ANO5):c.986T>G (p.Leu329Ter)
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626

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