ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_152393.4(KLHL40):c.1762G>A (p.Glu588Lys) rs201856772 0.00182
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr) rs149482195 0.00052
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met) rs138209392 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser) rs200163743 0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp) rs569489518 0.00005
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys) rs147477491 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.6458T>C (p.Met2153Thr) rs759940587 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn) rs758723038 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) rs769678793 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter) rs1187516594 0.00001
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_004006.3(DMD):c.7016A>G (p.His2339Arg) rs398124041 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_005559.4(LAMA1):c.5661-2A>G rs930107993 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr) rs751525888 0.00001
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000069.3(CACNA1S):c.1271A>G (p.Lys424Arg)
NM_000069.3(CACNA1S):c.3353C>A (p.Ser1118Tyr)
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.4196T>G (p.Leu1399Arg)
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000117.3(EMD):c.274GAC[1] (p.Asp93del)
NM_000182.5(HADHA):c.1086-1_1088dup
NM_000182.5(HADHA):c.453G>A (p.Glu151=)
NM_000183.3(HADHB):c.631-1G>A rs1553322031
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000232.5(SGCB):c.541_551del (p.Phe180_Ser181insTer)
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1482T>G (p.Phe494Leu)
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser) rs1211784451
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000426.4(LAMA2):c.112G>A (p.Gly38Ser)
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter) rs2114593621
NM_000426.4(LAMA2):c.5524G>A (p.Ala1842Thr)
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.4(LAMA2):c.67_71del (p.Gln23fs)
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000540.3(RYR1):c.10010G>T (p.Arg3337Leu)
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter) rs199895006
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)
NM_000540.3(RYR1):c.7679C>T (p.Pro2560Leu)
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter) rs146514343
NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)
NM_001036.6(RYR3):c.10063C>T (p.Arg3355Trp)
NM_001036.6(RYR3):c.10495C>A (p.Leu3499Met)
NM_001077365.2(POMT1):c.1175+3del rs2131708682
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val) rs1659975747
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001100.4(ACTA1):c.769T>C (p.Phe257Leu)
NM_001100.4(ACTA1):c.773G>A (p.Arg258His) rs1659953887
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter) rs1172643225
NM_001130987.2(DYSF):c.3019C>A (p.Pro1007Thr)
NM_001135254.2(PAX7):c.739C>T (p.Arg247Cys)
NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)
NM_001159702.3(FHL1):c.705_706del (p.Arg236fs)
NM_001161403.3(LIMS2):c.430del (p.His144fs)
NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter)
NM_001164508.2(NEB):c.1015del (p.Ala339fs) rs2150017687
NM_001164508.2(NEB):c.11068A>G (p.Met3690Val)
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.16909-1G>A rs2153806528
NM_001164508.2(NEB):c.20976del (p.Val6993fs) rs1559680233
NM_001164508.2(NEB):c.22590+5G>A
NM_001164508.2(NEB):c.24331dup (p.Thr8111fs)
NM_001164508.2(NEB):c.24332C>A (p.Thr8111Asn)
NM_001164508.2(NEB):c.24332C>T (p.Thr8111Ile)
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.3271G>T (p.Asp1091Tyr)
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro) rs2098711068
NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile)
NM_001231.5(CASQ1):c.865G>A (p.Ala289Thr)
NM_001256007.3(PNPLA8):c.1748_1749del (p.Tyr583fs)
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter) rs2154132755
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
NM_001267550.2(TTN):c.22982A>C (p.Asn7661Thr) rs2078278433
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.39985C>G (p.Pro13329Ala)
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.54613A>G (p.Lys18205Glu)
NM_001267550.2(TTN):c.57103T>G (p.Trp19035Gly)
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)
NM_001267550.2(TTN):c.61054G>A (p.Gly20352Arg)
NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)
NM_001267550.2(TTN):c.718G>T (p.Val240Phe)
NM_001267550.2(TTN):c.84554G>A (p.Arg28185Gln)
NM_001267550.2(TTN):c.85853G>A (p.Gly28618Glu)
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) rs786205537
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.99506G>A (p.Gly33169Asp)
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001365068.1(ASTN2):c.892G>C (p.Asp298His)
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu) rs2077761954
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001927.4(DES):c.1213T>C (p.Tyr405His)
NM_001927.4(DES):c.152C>A (p.Ser51Tyr)
NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)
NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)
NM_002226.5(JAG2):c.2434C>T (p.Arg812Cys)
NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter)
NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly) rs1555250509
NM_003673.4(TCAP):c.110+5G>T rs794729178
NM_003888.4(ALDH1A2):c.117+7508dup
NM_004006.3(DMD):c.2168+1G>T rs1057518207
NM_004006.3(DMD):c.221T>C (p.Leu74Pro)
NM_004006.3(DMD):c.3488A>C (p.Gln1163Pro)
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4444A>T (p.Lys1482Ter)
NM_004006.3(DMD):c.6865G>A (p.Asp2289Asn)
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004369.4(COL6A3):c.3281C>T (p.Ala1094Val)
NM_004369.4(COL6A3):c.5815C>G (p.Gln1939Glu)
NM_004369.4(COL6A3):c.8056G>T (p.Glu2686Ter)
NM_004370.6(COL12A1):c.5308_5311del (p.Thr1770fs)
NM_004370.6(COL12A1):c.8685+1G>A
NM_004393.6(DAG1):c.1915G>A (p.Asp639Asn)
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) rs786205666
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005476.7(GNE):c.503T>C (p.Leu168Pro)
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter) rs768300296
NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) rs759521852
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006790.3(MYOT):c.634C>T (p.Gln212Ter)
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter) rs921785357
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_007124.3(UTRN):c.4134+1G>A
NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser) rs374494789
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu) rs769778269
NM_018116.4(MSTO1):c.280G>A (p.Ala94Thr)
NM_018116.4(MSTO1):c.305C>T (p.Thr102Ile)
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_025215.6(PUS1):c.462_463dup (p.Val155fs)
NM_031229.4(RBCK1):c.683_705del (p.Ala228fs)
NM_032578.4(MYPN):c.254A>G (p.Tyr85Cys)
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe) rs943422668
NM_032608.7(MYO18B):c.1763T>C (p.Leu588Pro)
NM_032608.7(MYO18B):c.2884A>G (p.Thr962Ala)
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser) rs2125700641
NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)
NM_078470.6(COX15):c.750+1G>A
NM_133642.5(LARGE1):c.1355C>T (p.Thr452Ile)
NM_138638.5(CFL2):c.338del (p.Ser113fs) rs1594784544
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_152328.5(ADSS1):c.1073_1073+1insT
NM_152393.4(KLHL40):c.1755del
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys) rs58133342
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn) rs267607608
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys) rs59931416
NM_170707.4(LMNA):c.1560G>C (p.Trp520Cys)
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_178554.6(KY):c.337+5G>T
NM_182914.3(SYNE2):c.18549G>T (p.Gln6183His)
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser)
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)

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