ClinVar Miner

List of variants studied for congenital myopathy by GeneReviews

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249 0.00016
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) rs866001342 0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) rs1064792870 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) rs946234163 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NC_012920.1(MT-CO1):m.7023G>A rs2124593767
NC_012920.1(MT-CO3):m.9957T>C rs1556423753
NC_012920.1(MT-CYB):m.14864T>C
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-TH):m.12146A>G rs2124597054
NC_012920.1(MT-TK):m.8316T>C
NC_012920.1(MT-TL2):m.12299A>C
NC_012920.1(MT-TV):m.1642G>A rs2124591032
NC_012920.1:m.13514A>G rs587776440
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.8483_13459del4977
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.2330del (p.Gly777fs) rs80356707
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro) rs730880806
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) rs587779396
NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys) rs797044598
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu) rs118192118
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp) rs118192144
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro) rs118192151
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val) rs118192148
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu) rs118192183
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala) rs193922784
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu) rs367543056
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val) rs193922821
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.3(RYR1):c.9000+1G>T rs111364670
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp) rs367543050
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) rs281864931
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001953.4(TYMP):c.929-3G>A
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) rs28931613
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) rs1064792857
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) rs1064792858
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) rs1064792886
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) rs1064792860
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) rs1064792862
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) rs199901350
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) rs1064792863
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) rs1064792864
NM_001953.5(TYMP):c.516+2T>C rs797044454
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) rs1064792866
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) rs121913041
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) rs1064792867
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) rs1064792868
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) rs1064792869
NM_001953.5(TYMP):c.720del (p.Val241fs) rs1064792887
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) rs1064792888
NM_001953.5(TYMP):c.847C>G (p.His283Asp) rs1064792871
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) rs121913040
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) rs121913040
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.966T>C (p.Thr322=) rs1064792856
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881
NM_001953.5(TYMP):c.99dup (p.Lys34fs) rs1064792880
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+5G>A rs886044593
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr) rs80358250
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.763_766del (p.Leu255fs) rs773050511
NM_145064.3(STAC3):c.997-1G>T rs779483367
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
Single allele
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
c.1069A>G
c.52_53delCT
c.972T>C
m.12147G>A rs121434474
m.12207G>A rs118203889
m.12770A>G rs267606894
m.13042G>A rs267606898
m.13084A>T rs267606896
m.13513G>A rs267606897
m.14453G>A rs199476107
m.3252A>G rs199474661
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3697G>A rs199476122
m.3946G>A rs199476123
m.3949T>C rs199476124
m.4332G>A rs199476141
m.5521G>A rs199474673
m.583G>A rs118203885
m.611G>A rs118203886
m.7512T>C rs199474817
m.8296A>G rs118192102
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.8363G>A rs118192100
p.L4796C
p.M2434K

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