ClinVar Miner

List of variants studied for autosomal recessive distal myopathy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
Download table as spreadsheet
HGVS dbSNP
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.52-9097C>T rs886063929
NM_001130987.2(DYSF):c.*142G>A rs774156078
NM_001130987.2(DYSF):c.*179G>A rs886056284
NM_001130987.2(DYSF):c.*199T>G rs13429381
NM_001130987.2(DYSF):c.*245T>C rs886056285
NM_001130987.2(DYSF):c.*267C>G rs181677134
NM_001130987.2(DYSF):c.*53G>A rs114777968
NM_001130987.2(DYSF):c.*75C>T rs374833260
NM_001130987.2(DYSF):c.*78C>T rs367543759
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1276+13C>T rs373530549
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1449+13C>T rs4852801
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861
NM_001130987.2(DYSF):c.1493+13T>C rs886056279
NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) rs886056280
NM_001130987.2(DYSF):c.1511A>G (p.Asn504Ser) rs748826870
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1807-10C>T rs749361351
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085
NM_001130987.2(DYSF):c.2217-11G>A rs200853014
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054
NM_001130987.2(DYSF):c.2409+14G>A rs141170955
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922
NM_001130987.2(DYSF):c.2789A>G (p.Lys930Arg) rs886056281
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568
NM_001130987.2(DYSF):c.3052T>G (p.Ser1018Ala) rs886042550
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682
NM_001130987.2(DYSF):c.3239_3244CGGAGG[3] (p.1080_1081AE[3]) rs398123779
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.373A>G (p.Thr125Ala) rs886056278
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3898-4C>G rs555206040
NM_001130987.2(DYSF):c.3927+10G>A rs886056282
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4464+7T>C rs369949055
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915
NM_001130987.2(DYSF):c.5643-12A>G rs375507062
NM_001130987.2(DYSF):c.5785-8C>T rs201191038
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218
NM_001130987.2(DYSF):c.759+10G>A rs200198865
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_005476.7(GNE):c.*1012_*1013CA[10] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[14] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[15] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[16] rs10527967
NM_005476.7(GNE):c.*1012_*1013CA[22] rs10527967
NM_005476.7(GNE):c.*1021A>G rs10435799
NM_005476.7(GNE):c.*1054C>A rs7048468
NM_005476.7(GNE):c.*1204T>C rs183365416
NM_005476.7(GNE):c.*1575C>T rs761447556
NM_005476.7(GNE):c.*1635G>A rs190727651
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1728C>T rs41277097
NM_005476.7(GNE):c.*1781G>A rs16933086
NM_005476.7(GNE):c.*1826G>C rs7044157
NM_005476.7(GNE):c.*2056C>T rs183641957
NM_005476.7(GNE):c.*208T>C rs771508931
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*2211C>G rs150978860
NM_005476.7(GNE):c.*2269C>T rs575299401
NM_005476.7(GNE):c.*2391C>T rs1043313
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2415T>A rs143569888
NM_005476.7(GNE):c.*2448A>G rs757287887
NM_005476.7(GNE):c.*2576A>G rs531142218
NM_005476.7(GNE):c.*2679G>A rs566044462
NM_005476.7(GNE):c.*2766T>C rs886063916
NM_005476.7(GNE):c.*277_*279ATA[1] rs140089561
NM_005476.7(GNE):c.*2789G>A rs140396892
NM_005476.7(GNE):c.*2847T>C rs886063915
NM_005476.7(GNE):c.*2877T>C rs886063914
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*30C>G rs540975887
NM_005476.7(GNE):c.*446C>T rs886063924
NM_005476.7(GNE):c.*513G>A rs886063923
NM_005476.7(GNE):c.*554G>A rs755277976
NM_005476.7(GNE):c.*583G>A rs182741472
NM_005476.7(GNE):c.*630C>T rs150102934
NM_005476.7(GNE):c.*691A>T rs10972791
NM_005476.7(GNE):c.*692_*694AAT[10] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[12] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[13] rs113316798
NM_005476.7(GNE):c.*692_*694AAT[9] rs113316798
NM_005476.7(GNE):c.*693A>T rs886063922
NM_005476.7(GNE):c.*694T>A rs867926432
NM_005476.7(GNE):c.*702dup rs886063921
NM_005476.7(GNE):c.*74G>A rs16933089
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.*937G>A rs191229205
NM_005476.7(GNE):c.-152G>T rs142004500
NM_005476.7(GNE):c.-65G>A rs138897916
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.769+4A>G rs886063926
NM_213599.2(ANO5):c.*106T>C rs886048126
NM_213599.2(ANO5):c.*1095G>A rs886048130
NM_213599.2(ANO5):c.*1119C>T rs886048131
NM_213599.2(ANO5):c.*112_*113del rs5790246
NM_213599.2(ANO5):c.*114C>T rs12575889
NM_213599.2(ANO5):c.*114_*115del rs886048127
NM_213599.2(ANO5):c.*1248A>G rs886048132
NM_213599.2(ANO5):c.*1286G>T rs7925081
NM_213599.2(ANO5):c.*1313A>G rs73483432
NM_213599.2(ANO5):c.*1328C>T rs78089375
NM_213599.2(ANO5):c.*1429A>G rs78143145
NM_213599.2(ANO5):c.*1521T>C rs73483433
NM_213599.2(ANO5):c.*1647T>C rs886048133
NM_213599.2(ANO5):c.*1661C>T rs12284506
NM_213599.2(ANO5):c.*1666_*1669dup rs886048134
NM_213599.2(ANO5):c.*1674T>A rs886048135
NM_213599.2(ANO5):c.*1712T>C rs530413127
NM_213599.2(ANO5):c.*1757A>C rs886048136
NM_213599.2(ANO5):c.*1762del rs398015552
NM_213599.2(ANO5):c.*185A>G rs774589940
NM_213599.2(ANO5):c.*1894_*1897delAAGA rs397786204
NM_213599.2(ANO5):c.*1941C>T rs183334403
NM_213599.2(ANO5):c.*1967G>A rs147606218
NM_213599.2(ANO5):c.*2095G>A rs142192440
NM_213599.2(ANO5):c.*2207A>T rs143147634
NM_213599.2(ANO5):c.*220G>A rs886048128
NM_213599.2(ANO5):c.*2252T>C rs886048137
NM_213599.2(ANO5):c.*2274A>G rs372225865
NM_213599.2(ANO5):c.*2293G>C rs886048138
NM_213599.2(ANO5):c.*2296T>C rs762485787
NM_213599.2(ANO5):c.*2357A>T rs151218419
NM_213599.2(ANO5):c.*2568T>A rs150297037
NM_213599.2(ANO5):c.*2704A>C rs886048139
NM_213599.2(ANO5):c.*2752G>A rs752574891
NM_213599.2(ANO5):c.*2784G>A rs886048140
NM_213599.2(ANO5):c.*279G>A rs72982058
NM_213599.2(ANO5):c.*2869A>G rs115249135
NM_213599.2(ANO5):c.*2947A>T rs764082792
NM_213599.2(ANO5):c.*2980T>C rs886048141
NM_213599.2(ANO5):c.*305A>T rs867650799
NM_213599.2(ANO5):c.*3077G>C rs184295328
NM_213599.2(ANO5):c.*3152G>A rs79486036
NM_213599.2(ANO5):c.*3155T>C rs78929863
NM_213599.2(ANO5):c.*3168C>T rs35892535
NM_213599.2(ANO5):c.*3178C>G rs6483841
NM_213599.2(ANO5):c.*3196A>G rs886048142
NM_213599.2(ANO5):c.*3206A>G rs886048143
NM_213599.2(ANO5):c.*3251_*3253del rs548308698
NM_213599.2(ANO5):c.*3273G>C rs886048145
NM_213599.2(ANO5):c.*3350T>G rs144806967
NM_213599.2(ANO5):c.*3373C>A rs868787906
NM_213599.2(ANO5):c.*3473T>G rs886048147
NM_213599.2(ANO5):c.*3481dup rs147581685
NM_213599.2(ANO5):c.*496A>G rs10766930
NM_213599.2(ANO5):c.*554C>T rs117180492
NM_213599.2(ANO5):c.*622G>A rs185108747
NM_213599.2(ANO5):c.*811A>G rs886048129
NM_213599.2(ANO5):c.*817A>G rs551128567
NM_213599.2(ANO5):c.*930C>T rs78428314
NM_213599.2(ANO5):c.*99del rs376217145
NM_213599.2(ANO5):c.-136G>C rs12792259
NM_213599.2(ANO5):c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG rs71034576
NM_213599.2(ANO5):c.-162A>G rs61879341
NM_213599.2(ANO5):c.-194G>T rs573002846
NM_213599.2(ANO5):c.-210G>C rs181864243
NM_213599.2(ANO5):c.-217G>T rs73479393
NM_213599.2(ANO5):c.-261A>C rs114897158
NM_213599.2(ANO5):c.-65G>C rs886048116
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.1042G>A (p.Gly348Ser) rs139344099
NM_213599.2(ANO5):c.1277T>C (p.Leu426Pro) rs886048119
NM_213599.2(ANO5):c.138+10G>A rs78987921
NM_213599.2(ANO5):c.138+7A>G rs886048118
NM_213599.2(ANO5):c.1450C>T (p.Arg484Cys) rs777607869
NM_213599.2(ANO5):c.1548C>T (p.Leu516=) rs886042624
NM_213599.2(ANO5):c.1641A>C (p.Arg547=) rs886048120
NM_213599.2(ANO5):c.1801-9T>C rs202034123
NM_213599.2(ANO5):c.1924C>G (p.Arg642Gly) rs146341538
NM_213599.2(ANO5):c.2139C>T (p.Thr713=) rs767479331
NM_213599.2(ANO5):c.2235+4A>C rs372056234
NM_213599.2(ANO5):c.2236-10_2236-7del rs886048121
NM_213599.2(ANO5):c.2236-5T>G rs886048122
NM_213599.2(ANO5):c.2249C>T (p.Ala750Val) rs886048123
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2317A>G (p.Met773Val) rs751028884
NM_213599.2(ANO5):c.2478G>T (p.Trp826Cys) rs886048124
NM_213599.2(ANO5):c.2580T>C (p.Asp860=) rs886048125
NM_213599.2(ANO5):c.267T>C (p.Asp89=) rs4312063
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.2(ANO5):c.364-8del rs146983312
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.567A>G (p.Ala189=) rs546565538
NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) rs143078257
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.79A>C (p.Met27Leu) rs886048117
NM_213599.2(ANO5):c.88-14C>T rs770721931
NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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