ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NC_000023.11:g.150657994_150657995delinsT rs797045711
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs) rs1554371369
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3774+1G>A rs111293259
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA rs797045898
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) rs1553264624
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) rs1553265436
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) rs1553850100
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993

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