ClinVar Miner

List of variants in gene CRPPA reported as uncertain significance for Congenital Muscular Dystrophy, alpha-dystroglycan related

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Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP
NM_001101426.4(CRPPA):c.*1080G>A rs534525944
NM_001101426.4(CRPPA):c.*1145dup rs56034283
NM_001101426.4(CRPPA):c.*1146G>T rs142712241
NM_001101426.4(CRPPA):c.*1146_*1152del rs886062160
NM_001101426.4(CRPPA):c.*1148A>G
NM_001101426.4(CRPPA):c.*1148A>T
NM_001101426.4(CRPPA):c.*1152_*1153dup rs886062159
NM_001101426.4(CRPPA):c.*1153dup rs886062159
NM_001101426.4(CRPPA):c.*1357A>C
NM_001101426.4(CRPPA):c.*1365C>G
NM_001101426.4(CRPPA):c.*1442G>T
NM_001101426.4(CRPPA):c.*1518C>G
NM_001101426.4(CRPPA):c.*151G>A rs886062165
NM_001101426.4(CRPPA):c.*1704C>T
NM_001101426.4(CRPPA):c.*1742A>G
NM_001101426.4(CRPPA):c.*1801A>T
NM_001101426.4(CRPPA):c.*1812C>G rs886062158
NM_001101426.4(CRPPA):c.*1848C>G
NM_001101426.4(CRPPA):c.*2030A>G
NM_001101426.4(CRPPA):c.*2048G>C
NM_001101426.4(CRPPA):c.*2088C>T
NM_001101426.4(CRPPA):c.*2089C>T
NM_001101426.4(CRPPA):c.*2110C>T
NM_001101426.4(CRPPA):c.*2121_*2122AT[3] rs762738628
NM_001101426.4(CRPPA):c.*2133A>G rs753044436
NM_001101426.4(CRPPA):c.*2188_*2191TGTA[1] rs886062157
NM_001101426.4(CRPPA):c.*2211G>A rs776032519
NM_001101426.4(CRPPA):c.*2220T>C rs551192977
NM_001101426.4(CRPPA):c.*2225A>C
NM_001101426.4(CRPPA):c.*2225A>G rs778279279
NM_001101426.4(CRPPA):c.*2235A>C rs200738139
NM_001101426.4(CRPPA):c.*2237A>G
NM_001101426.4(CRPPA):c.*2239A>G rs886062156
NM_001101426.4(CRPPA):c.*2243_*2244del rs886062155
NM_001101426.4(CRPPA):c.*2248C>T
NM_001101426.4(CRPPA):c.*2250C>T
NM_001101426.4(CRPPA):c.*2251G>A rs554576095
NM_001101426.4(CRPPA):c.*2263A>C
NM_001101426.4(CRPPA):c.*2265A>G
NM_001101426.4(CRPPA):c.*2267del rs886062154
NM_001101426.4(CRPPA):c.*2279G>A
NM_001101426.4(CRPPA):c.*2302A>G
NM_001101426.4(CRPPA):c.*2308A>T
NM_001101426.4(CRPPA):c.*2310A>G rs532275305
NM_001101426.4(CRPPA):c.*2313C>T
NM_001101426.4(CRPPA):c.*2336G>A rs190071410
NM_001101426.4(CRPPA):c.*2349T>C
NM_001101426.4(CRPPA):c.*2352G>A rs118008517
NM_001101426.4(CRPPA):c.*2379C>T rs886062153
NM_001101426.4(CRPPA):c.*2380G>A rs28444529
NM_001101426.4(CRPPA):c.*2383T>C
NM_001101426.4(CRPPA):c.*239G>A rs574868063
NM_001101426.4(CRPPA):c.*2403C>T
NM_001101426.4(CRPPA):c.*2404G>A rs191022176
NM_001101426.4(CRPPA):c.*2408G>A
NM_001101426.4(CRPPA):c.*2432G>A rs536585505
NM_001101426.4(CRPPA):c.*2446_*2447AT[2] rs760783203
NM_001101426.4(CRPPA):c.*2459C>T
NM_001101426.4(CRPPA):c.*2464G>A rs772992506
NM_001101426.4(CRPPA):c.*2465C>T
NM_001101426.4(CRPPA):c.*2512A>C rs886062152
NM_001101426.4(CRPPA):c.*2518G>A
NM_001101426.4(CRPPA):c.*2519T>A
NM_001101426.4(CRPPA):c.*2522G>A rs181802434
NM_001101426.4(CRPPA):c.*2635A>G
NM_001101426.4(CRPPA):c.*2759G>A rs768023973
NM_001101426.4(CRPPA):c.*2775G>A
NM_001101426.4(CRPPA):c.*2801T>G rs886062151
NM_001101426.4(CRPPA):c.*283G>A
NM_001101426.4(CRPPA):c.*2846G>A rs886062150
NM_001101426.4(CRPPA):c.*2915A>C
NM_001101426.4(CRPPA):c.*2926A>G rs147319918
NM_001101426.4(CRPPA):c.*3025C>T rs150443736
NM_001101426.4(CRPPA):c.*303G>A rs541517871
NM_001101426.4(CRPPA):c.*3075C>T
NM_001101426.4(CRPPA):c.*3076G>A
NM_001101426.4(CRPPA):c.*3121A>G
NM_001101426.4(CRPPA):c.*3123C>T rs550127605
NM_001101426.4(CRPPA):c.*3133G>C rs886062149
NM_001101426.4(CRPPA):c.*3139A>G rs56232398
NM_001101426.4(CRPPA):c.*3146G>A
NM_001101426.4(CRPPA):c.*3161T>G rs560388735
NM_001101426.4(CRPPA):c.*3187G>T rs886062148
NM_001101426.4(CRPPA):c.*3189G>A
NM_001101426.4(CRPPA):c.*3191C>A rs190481410
NM_001101426.4(CRPPA):c.*3196C>G rs886062147
NM_001101426.4(CRPPA):c.*3217G>A
NM_001101426.4(CRPPA):c.*3261A>G rs886062146
NM_001101426.4(CRPPA):c.*3261_*3269delinsG rs886062145
NM_001101426.4(CRPPA):c.*3281_*3282dup rs71549971
NM_001101426.4(CRPPA):c.*3283G>A
NM_001101426.4(CRPPA):c.*3287G>A rs886062143
NM_001101426.4(CRPPA):c.*3362C>T
NM_001101426.4(CRPPA):c.*3395A>T
NM_001101426.4(CRPPA):c.*3457G>C
NM_001101426.4(CRPPA):c.*3491G>A rs886062142
NM_001101426.4(CRPPA):c.*3525T>C
NM_001101426.4(CRPPA):c.*354T>G
NM_001101426.4(CRPPA):c.*3550G>T
NM_001101426.4(CRPPA):c.*3561A>G
NM_001101426.4(CRPPA):c.*3578del rs886062141
NM_001101426.4(CRPPA):c.*362G>A
NM_001101426.4(CRPPA):c.*3792A>G rs544136100
NM_001101426.4(CRPPA):c.*3806C>G rs886062140
NM_001101426.4(CRPPA):c.*4000G>A
NM_001101426.4(CRPPA):c.*4010G>A rs886062139
NM_001101426.4(CRPPA):c.*4023C>T rs12539174
NM_001101426.4(CRPPA):c.*4069C>T
NM_001101426.4(CRPPA):c.*4092A>G rs188823385
NM_001101426.4(CRPPA):c.*4116A>G rs886062138
NM_001101426.4(CRPPA):c.*414T>G rs567155318
NM_001101426.4(CRPPA):c.*4159T>C
NM_001101426.4(CRPPA):c.*421T>C rs886062164
NM_001101426.4(CRPPA):c.*465T>C rs189639444
NM_001101426.4(CRPPA):c.*509A>G rs886062163
NM_001101426.4(CRPPA):c.*517G>A
NM_001101426.4(CRPPA):c.*520C>T rs560195227
NM_001101426.4(CRPPA):c.*584T>C
NM_001101426.4(CRPPA):c.*62G>A
NM_001101426.4(CRPPA):c.*686G>T rs145763791
NM_001101426.4(CRPPA):c.*767T>C rs886062162
NM_001101426.4(CRPPA):c.*76G>A
NM_001101426.4(CRPPA):c.*831C>G rs886062161
NM_001101426.4(CRPPA):c.*884G>A
NM_001101426.4(CRPPA):c.*940A>C
NM_001101426.4(CRPPA):c.1026+10T>C rs886062166
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly)
NM_001101426.4(CRPPA):c.1251+11T>C
NM_001101426.4(CRPPA):c.1251+4G>A rs753402341
NM_001101426.4(CRPPA):c.1253A>G (p.Asp418Gly) rs1174210413
NM_001101426.4(CRPPA):c.1345C>T (p.Leu449=)
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770
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.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.597A>C (p.Leu199Phe)
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216
NM_001101426.4(CRPPA):c.628G>A (p.Ala210Thr) rs886062168
NM_001101426.4(CRPPA):c.684+12G>A rs376232862
NM_001101426.4(CRPPA):c.702G>C (p.Leu234Phe) rs886062167
NM_001101426.4(CRPPA):c.790-11C>T rs141363557
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter) rs1562603579
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665

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