ClinVar Miner

List of variants studied for Congenital Muscular Dystrophy, alpha-dystroglycan related

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.*2148T>C rs9691136 0.99613
NM_001101426.4(CRPPA):c.*988G>T rs1918859 0.82641
NM_001101426.4(CRPPA):c.*60G>A rs1528137 0.79538
NM_001101426.4(CRPPA):c.*1677A>G rs1528136 0.72029
NM_001101426.4(CRPPA):c.*2167G>A rs28379235 0.60518
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_001101426.4(CRPPA):c.*2380G>A rs28444529 0.31999
NM_001101426.4(CRPPA):c.*4023C>A rs12539174 0.31991
NM_001101426.4(CRPPA):c.*2106C>T rs11773533 0.31853
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_001101426.4(CRPPA):c.*2333T>C rs201756228 0.09845
NM_001101426.4(CRPPA):c.*2149A>C rs28569130 0.04280
NM_001101426.4(CRPPA):c.*321A>G rs7788119 0.04055
NM_001101426.4(CRPPA):c.*791T>C rs17150159 0.03990
NM_001101426.4(CRPPA):c.*2566A>G rs76015838 0.03479
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_001101426.4(CRPPA):c.*1849G>A rs60843615 0.02271
NM_001101426.4(CRPPA):c.*1848C>T rs78791023 0.01572
NM_001101426.4(CRPPA):c.*1099C>T rs141259768 0.01545
NM_001101426.4(CRPPA):c.*2351C>T rs114572844 0.01443
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001101426.4(CRPPA):c.*2181A>G rs183114712 0.00916
NM_001101426.4(CRPPA):c.*2368T>G rs9691122 0.00849
NM_001101426.4(CRPPA):c.*3283G>A rs370712733 0.00839
NM_001101426.4(CRPPA):c.*3087G>A rs148322529 0.00802
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001101426.4(CRPPA):c.*2276T>C rs117664754 0.00721
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001101426.4(CRPPA):c.*3374C>T rs141198656 0.00685
NM_001101426.4(CRPPA):c.*3139A>G rs56232398 0.00609
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001101426.4(CRPPA):c.*3261A>G rs886062146 0.00533
NM_001101426.4(CRPPA):c.*86A>G rs16878685 0.00512
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_001101426.4(CRPPA):c.*1146G>T rs142712241 0.00455
NM_001101426.4(CRPPA):c.*940A>C rs62440856 0.00446
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_001101426.4(CRPPA):c.*2491C>T rs80084340 0.00351
NM_001101426.4(CRPPA):c.*1855G>C rs111577730 0.00327
NM_001101426.4(CRPPA):c.*2981C>T rs113434115 0.00327
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_001101426.4(CRPPA):c.*2522G>A rs181802434 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_001101426.4(CRPPA):c.*2352G>A rs118008517 0.00235
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001101426.4(CRPPA):c.*2119C>A rs148625258 0.00218
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001101426.4(CRPPA):c.*4092A>G rs188823385 0.00138
NM_001101426.4(CRPPA):c.*2336G>A rs190071410 0.00134
NM_001101426.4(CRPPA):c.*2459C>T rs538655524 0.00122
NM_001101426.4(CRPPA):c.*4159T>C rs184324561 0.00108
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001101426.4(CRPPA):c.*4000G>A rs192924503 0.00098
NM_001101426.4(CRPPA):c.*1080G>A rs534525944 0.00095
NM_001101426.4(CRPPA):c.*2926A>G rs147319918 0.00092
NM_001101426.4(CRPPA):c.*2488G>A rs753515691 0.00080
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_001101426.4(CRPPA):c.*2403C>T rs544273008 0.00071
NM_001101426.4(CRPPA):c.*112T>G rs16878683 0.00069
NM_001101426.4(CRPPA):c.*3395A>T rs556956587 0.00066
NM_001101426.4(CRPPA):c.*686G>T rs145763791 0.00050
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_001101426.4(CRPPA):c.*3025C>T rs150443736 0.00047
NM_001101426.4(CRPPA):c.*520C>T rs560195227 0.00046
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001101426.4(CRPPA):c.*2030A>G rs569827891 0.00043
NM_001101426.4(CRPPA):c.*2155A>C rs28463725 0.00041
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_001101426.4(CRPPA):c.*414T>G rs567155318 0.00038
NM_001101426.4(CRPPA):c.*2349T>C rs944677278 0.00035
NM_001101426.4(CRPPA):c.*3189G>A rs766159630 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_001101426.4(CRPPA):c.*2279G>A rs926379026 0.00032
NM_001101426.4(CRPPA):c.*2310A>G rs532275305 0.00031
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001101426.4(CRPPA):c.*2304A>G rs547400634 0.00025
NM_001101426.4(CRPPA):c.*2225A>G rs778279279 0.00021
NM_001101426.4(CRPPA):c.*3091C>G rs552453133 0.00021
NM_001101426.4(CRPPA):c.*2248C>T rs779292675 0.00019
NM_001101426.4(CRPPA):c.*3362C>T rs143308024 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001101426.4(CRPPA):c.*4069C>T rs573114796 0.00018
NM_001101426.4(CRPPA):c.*2302A>G rs990417071 0.00016
NM_001101426.4(CRPPA):c.*3121A>G rs1020790608 0.00016
NM_001101426.4(CRPPA):c.*2220T>C rs551192977 0.00015
NM_001101426.4(CRPPA):c.*2251G>A rs554576095 0.00015
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_001101426.4(CRPPA):c.*767T>C rs886062162 0.00013
NM_001101426.4(CRPPA):c.*3792A>G rs544136100 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_001101426.4(CRPPA):c.*1442G>T rs932372516 0.00011
NM_001101426.4(CRPPA):c.*2313C>T rs751996181 0.00011
NM_001101426.4(CRPPA):c.*239G>A rs574868063 0.00011
NM_001101426.4(CRPPA):c.*2635A>G rs532378728 0.00011
NM_001101426.4(CRPPA):c.*584T>C rs191433411 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_001101426.4(CRPPA):c.*1148A>G rs146329563 0.00010
NM_001101426.4(CRPPA):c.*3284A>G rs533594383 0.00010
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_133642.5(LARGE1):c.*770A>T rs886057456 0.00010
NM_001101426.4(CRPPA):c.*2088C>T rs752838602 0.00009
NM_001101426.4(CRPPA):c.*2211G>A rs776032519 0.00009
NM_001101426.4(CRPPA):c.*2235A>C rs200738139 0.00009
NM_001101426.4(CRPPA):c.*2404G>A rs191022176 0.00009
NM_001101426.4(CRPPA):c.*465T>C rs189639444 0.00009
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_001101426.4(CRPPA):c.*2432G>A rs536585505 0.00008
NM_001101426.4(CRPPA):c.*2465C>T rs983136356 0.00008
NM_001101426.4(CRPPA):c.*283G>A rs867927432 0.00008
NM_001101426.4(CRPPA):c.*1357A>C rs935473846 0.00007
NM_001101426.4(CRPPA):c.*2518G>A rs774119580 0.00007
NM_001101426.4(CRPPA):c.*1742A>G rs914857829 0.00006
NM_001101426.4(CRPPA):c.*2239A>G rs886062156 0.00006
NM_001101426.4(CRPPA):c.*3146G>A rs543105173 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_001101426.4(CRPPA):c.*1365C>G rs1249608769 0.00005
NM_001101426.4(CRPPA):c.*2250C>T rs755461577 0.00005
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_001101426.4(CRPPA):c.*1518C>G rs959029467 0.00004
NM_001101426.4(CRPPA):c.*2519T>A rs1274968540 0.00004
NM_001101426.4(CRPPA):c.*2775G>A rs867638571 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_001101426.4(CRPPA):c.*151G>A rs886062165 0.00003
NM_001101426.4(CRPPA):c.*2197G>C rs371376395 0.00003
NM_001101426.4(CRPPA):c.*2464G>A rs772992506 0.00003
NM_001101426.4(CRPPA):c.*2846G>A rs886062150 0.00003
NM_001101426.4(CRPPA):c.*303G>A rs541517871 0.00003
NM_001101426.4(CRPPA):c.*3076G>A rs1427384549 0.00003
NM_001101426.4(CRPPA):c.*3123C>T rs550127605 0.00003
NM_001101426.4(CRPPA):c.*3161T>G rs560388735 0.00003
NM_001101426.4(CRPPA):c.*3187G>T rs886062148 0.00003
NM_001101426.4(CRPPA):c.*4010G>A rs886062139 0.00003
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001101426.4(CRPPA):c.1251+11T>C rs199790485 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_001101426.4(CRPPA):c.*2089C>T rs765157195 0.00002
NM_001101426.4(CRPPA):c.*2383T>C rs950989401 0.00002
NM_001101426.4(CRPPA):c.*517G>A rs1242088750 0.00002
NM_001101426.4(CRPPA):c.1026+10T>C rs886062166 0.00002
NM_001101426.4(CRPPA):c.1251+4G>A rs753402341 0.00002
NM_001101426.4(CRPPA):c.*2110C>T rs1027283531 0.00001
NM_001101426.4(CRPPA):c.*2133A>G rs753044436 0.00001
NM_001101426.4(CRPPA):c.*2237A>G rs200021535 0.00001
NM_001101426.4(CRPPA):c.*2325C>T rs201774908 0.00001
NM_001101426.4(CRPPA):c.*2408G>A rs1039068849 0.00001
NM_001101426.4(CRPPA):c.*2512A>C rs886062152 0.00001
NM_001101426.4(CRPPA):c.*3196C>G rs886062147 0.00001
NM_001101426.4(CRPPA):c.*3525T>C rs1562495258 0.00001
NM_001101426.4(CRPPA):c.*3806C>G rs886062140 0.00001
NM_001101426.4(CRPPA):c.*62G>A rs1034664801 0.00001
NM_001101426.4(CRPPA):c.*76G>A rs1384388053 0.00001
NM_001101426.4(CRPPA):c.1253A>G (p.Asp418Gly) rs1174210413 0.00001
NM_001101426.4(CRPPA):c.628G>A (p.Ala210Thr) rs886062168 0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823 0.00001
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NM_001101426.4(CRPPA):c.*1043C>G rs149771453
NM_001101426.4(CRPPA):c.*1145dup rs56034283
NM_001101426.4(CRPPA):c.*1146_*1152del rs886062160
NM_001101426.4(CRPPA):c.*1148A>T rs146329563
NM_001101426.4(CRPPA):c.*1152_*1153dup rs886062159
NM_001101426.4(CRPPA):c.*1153dup rs886062159
NM_001101426.4(CRPPA):c.*1470T>G rs528279923
NM_001101426.4(CRPPA):c.*1704C>T rs1781801682
NM_001101426.4(CRPPA):c.*1801A>T rs751008921
NM_001101426.4(CRPPA):c.*1812C>G rs886062158
NM_001101426.4(CRPPA):c.*1848C>G rs78791023
NM_001101426.4(CRPPA):c.*2048G>C rs1562497417
NM_001101426.4(CRPPA):c.*2121AT[3] rs762738628
NM_001101426.4(CRPPA):c.*2188TGTA[1] rs886062157
NM_001101426.4(CRPPA):c.*2219GTAC[3] rs58170479
NM_001101426.4(CRPPA):c.*2225A>C rs778279279
NM_001101426.4(CRPPA):c.*2226_*2229dup rs200404448
NM_001101426.4(CRPPA):c.*2243_*2244del rs886062155
NM_001101426.4(CRPPA):c.*2263A>C rs930725908
NM_001101426.4(CRPPA):c.*2265A>G rs528245755
NM_001101426.4(CRPPA):c.*2267del rs886062154
NM_001101426.4(CRPPA):c.*2308A>T rs1781775225
NM_001101426.4(CRPPA):c.*2321_*2324dup rs138718602
NM_001101426.4(CRPPA):c.*2326A>G rs200989147
NM_001101426.4(CRPPA):c.*2328G>A rs199541295
NM_001101426.4(CRPPA):c.*2368_*2373del rs72267760
NM_001101426.4(CRPPA):c.*2379C>T rs886062153
NM_001101426.4(CRPPA):c.*2446AT[2] rs760783203
NM_001101426.4(CRPPA):c.*2493TA[2] rs72031454
NM_001101426.4(CRPPA):c.*2759G>A rs768023973
NM_001101426.4(CRPPA):c.*2801T>G rs886062151
NM_001101426.4(CRPPA):c.*2915A>C rs1781752660
NM_001101426.4(CRPPA):c.*3075C>T rs181392858
NM_001101426.4(CRPPA):c.*3133G>C rs886062149
NM_001101426.4(CRPPA):c.*3191C>A rs190481410
NM_001101426.4(CRPPA):c.*3217G>A rs1181567990
NM_001101426.4(CRPPA):c.*3254C>G rs185506130
NM_001101426.4(CRPPA):c.*3261_*3269delinsG rs886062145
NM_001101426.4(CRPPA):c.*3275_*3282del rs71549971
NM_001101426.4(CRPPA):c.*3281_*3282dup rs71549971
NM_001101426.4(CRPPA):c.*3287G>A rs886062143
NM_001101426.4(CRPPA):c.*3457G>C rs1781736857
NM_001101426.4(CRPPA):c.*3475C>T rs80341455
NM_001101426.4(CRPPA):c.*3491G>A rs886062142
NM_001101426.4(CRPPA):c.*34C>G rs16878689
NM_001101426.4(CRPPA):c.*354T>G rs1781832756
NM_001101426.4(CRPPA):c.*3550G>T rs936921005
NM_001101426.4(CRPPA):c.*3561A>G rs1781734498
NM_001101426.4(CRPPA):c.*3578del rs886062141
NM_001101426.4(CRPPA):c.*362G>A rs1268226663
NM_001101426.4(CRPPA):c.*4023C>T rs12539174
NM_001101426.4(CRPPA):c.*4116A>G rs886062138
NM_001101426.4(CRPPA):c.*421T>C rs886062164
NM_001101426.4(CRPPA):c.*450T>A rs73289965
NM_001101426.4(CRPPA):c.*509A>G rs886062163
NM_001101426.4(CRPPA):c.*73TG[5] rs139003391
NM_001101426.4(CRPPA):c.*831C>G rs886062161
NM_001101426.4(CRPPA):c.*884G>A rs573446041
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1345C>T (p.Leu449=) rs1781841579
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.442A>C (p.Lys148Gln) rs886062169
NM_001101426.4(CRPPA):c.597A>C (p.Leu199Phe) rs1253464080
NM_001101426.4(CRPPA):c.684+12G>A rs376232862
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.702G>C (p.Leu234Phe) rs886062167
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter) rs1562603579
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264

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