ClinVar Miner

List of variants studied for Brody myopathy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 148
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HGVS dbSNP
ATP2A1, 1-BP DEL, 437C
ATP2A1, IVS3DS, G-C, -2
NC_000016.10:g.28902912G>A
NC_000016.9:g.(?_28835713)_(28915526_?)del
NC_000016.9:g.(?_28889809)_(28893910_?)dup
NC_000016.9:g.(?_28889973)_(28915546_?)del
NM_004320.5(ATP2A1):c.*103C>T rs368850176
NM_004320.5(ATP2A1):c.*158_*159del rs540528794
NM_004320.5(ATP2A1):c.*174A>G rs140984847
NM_004320.5(ATP2A1):c.*203G>C rs886051884
NM_004320.5(ATP2A1):c.*64G>A rs10499
NM_004320.5(ATP2A1):c.-22C>T rs75273069
NM_004320.5(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558
NM_004320.5(ATP2A1):c.1015G>A (p.Val339Ile)
NM_004320.5(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113
NM_004320.5(ATP2A1):c.1136T>C (p.Leu379Pro)
NM_004320.5(ATP2A1):c.1158C>T (p.Gly386=) rs1555516283
NM_004320.5(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388
NM_004320.5(ATP2A1):c.1176G>A (p.Glu392=) rs886051879
NM_004320.5(ATP2A1):c.1184+12A>G rs375336581
NM_004320.5(ATP2A1):c.1184+1G>A rs551660089
NM_004320.5(ATP2A1):c.1185-11C>T rs780795453
NM_004320.5(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233
NM_004320.5(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015
NM_004320.5(ATP2A1):c.1218G>A (p.Gln406=) rs577190575
NM_004320.5(ATP2A1):c.1224C>T (p.Asp408=) rs143812356
NM_004320.5(ATP2A1):c.1283A>G (p.Asn428Ser)
NM_004320.5(ATP2A1):c.1287+5C>T rs377237562
NM_004320.5(ATP2A1):c.1294G>A (p.Gly432Ser) rs752021942
NM_004320.5(ATP2A1):c.1312G>A (p.Gly438Ser)
NM_004320.5(ATP2A1):c.1329A>G (p.Thr443=) rs376915313
NM_004320.5(ATP2A1):c.136+2dup rs1415021206
NM_004320.5(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245
NM_004320.5(ATP2A1):c.137-4C>G rs201212818
NM_004320.5(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727
NM_004320.5(ATP2A1):c.1384_1385delinsGC (p.Leu462Ala)
NM_004320.5(ATP2A1):c.1400G>A (p.Arg467Lys) rs141453876
NM_004320.5(ATP2A1):c.1419G>A (p.Ser473=) rs749463179
NM_004320.5(ATP2A1):c.1427G>A (p.Arg476His) rs150068594
NM_004320.5(ATP2A1):c.1491T>G (p.Tyr497Ter) rs1409892710
NM_004320.5(ATP2A1):c.1540G>C (p.Val514Leu) rs769174301
NM_004320.5(ATP2A1):c.1560C>T (p.Gly520=) rs138565447
NM_004320.5(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983
NM_004320.5(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.5(ATP2A1):c.1619C>T (p.Pro540Leu) rs114675305
NM_004320.5(ATP2A1):c.1722G>A (p.Glu574=) rs145043756
NM_004320.5(ATP2A1):c.1740_1741CT[1] (p.Ser581fs) rs1421005631
NM_004320.5(ATP2A1):c.1764+6del rs66716803
NM_004320.5(ATP2A1):c.1764_1764+2delinsTGG
NM_004320.5(ATP2A1):c.1765-4C>G rs757455246
NM_004320.5(ATP2A1):c.1780G>A (p.Val594Met) rs142091964
NM_004320.5(ATP2A1):c.1809G>A (p.Pro603=) rs151309999
NM_004320.5(ATP2A1):c.1810C>T (p.Arg604Cys)
NM_004320.5(ATP2A1):c.1851C>T (p.Ala617=) rs140547832
NM_004320.5(ATP2A1):c.1852G>A (p.Gly618Arg) rs781065366
NM_004320.5(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450
NM_004320.5(ATP2A1):c.1909C>T (p.Arg637Trp)
NM_004320.5(ATP2A1):c.1910G>A (p.Arg637Gln)
NM_004320.5(ATP2A1):c.1935C>T (p.Asn645=) rs754620899
NM_004320.5(ATP2A1):c.1941G>A (p.Glu647=) rs886051880
NM_004320.5(ATP2A1):c.1948G>A (p.Asp650Asn) rs74573581
NM_004320.5(ATP2A1):c.195C>A (p.Leu65=) rs1555514587
NM_004320.5(ATP2A1):c.195_197CCT[1] (p.Leu67del) rs753865718
NM_004320.5(ATP2A1):c.1962G>A (p.Thr654=)
NM_004320.5(ATP2A1):c.1974C>T (p.Phe658=) rs61626938
NM_004320.5(ATP2A1):c.1976A>G (p.Asp659Gly) rs1555516985
NM_004320.5(ATP2A1):c.1990G>A (p.Ala664Thr)
NM_004320.5(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244
NM_004320.5(ATP2A1):c.2014C>T (p.Arg672Cys)
NM_004320.5(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114
NM_004320.5(ATP2A1):c.2046G>A (p.Ser682=) rs150380125
NM_004320.5(ATP2A1):c.204C>T (p.Ala68=) rs1555514590
NM_004320.5(ATP2A1):c.2077T>G (p.Ser693Ala) rs563510255
NM_004320.5(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257
NM_004320.5(ATP2A1):c.208T>C (p.Cys70Arg)
NM_004320.5(ATP2A1):c.2091C>G (p.Ile697Met) rs886051881
NM_004320.5(ATP2A1):c.2101-8T>G rs200246286
NM_004320.5(ATP2A1):c.2112C>T (p.Gly704=) rs751104390
NM_004320.5(ATP2A1):c.2121C>T (p.Asp707=) rs767129999
NM_004320.5(ATP2A1):c.2182A>G (p.Lys728Glu)
NM_004320.5(ATP2A1):c.220-11C>T rs369161791
NM_004320.5(ATP2A1):c.2209_2211GAC[1] (p.Asp738del) rs1180385645
NM_004320.5(ATP2A1):c.2239G>A (p.Val747Met)
NM_004320.5(ATP2A1):c.2285G>A (p.Arg762His) rs886051882
NM_004320.5(ATP2A1):c.2310C>T (p.Gly770=) rs7192781
NM_004320.5(ATP2A1):c.2311G>T (p.Glu771Ter)
NM_004320.5(ATP2A1):c.2343G>A (p.Leu781=) rs886051883
NM_004320.5(ATP2A1):c.2366C>G (p.Pro789Arg)
NM_004320.5(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.5(ATP2A1):c.2371C>T (p.Gln791Ter)
NM_004320.5(ATP2A1):c.2414C>T (p.Thr805Ile)
NM_004320.5(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970
NM_004320.5(ATP2A1):c.2462C>A (p.Pro821His)
NM_004320.5(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.251C>T (p.Thr84Ile)
NM_004320.5(ATP2A1):c.2521G>A (p.Gly841Arg)
NM_004320.5(ATP2A1):c.2524+3G>T rs2071341
NM_004320.5(ATP2A1):c.2535T>C (p.Gly845=) rs1291666603
NM_004320.5(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808
NM_004320.5(ATP2A1):c.2545G>A (p.Val849Met)
NM_004320.5(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969
NM_004320.5(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.5(ATP2A1):c.2632G>A (p.Glu878Lys)
NM_004320.5(ATP2A1):c.2678C>T (p.Ala893Val) rs1237226867
NM_004320.5(ATP2A1):c.2750C>G (p.Ser917Cys) rs1555517373
NM_004320.5(ATP2A1):c.2752G>A (p.Glu918Lys) rs376101862
NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_004320.5(ATP2A1):c.2771G>A (p.Arg924Gln)
NM_004320.5(ATP2A1):c.2774dup (p.Met925fs) rs398124555
NM_004320.5(ATP2A1):c.2776C>T (p.Pro926Ser) rs769822529
NM_004320.5(ATP2A1):c.2862+9T>G rs1555517403
NM_004320.5(ATP2A1):c.2943C>T (p.Asp981=) rs146599017
NM_004320.5(ATP2A1):c.2944G>A (p.Glu982Lys)
NM_004320.5(ATP2A1):c.2958C>G (p.Phe986Leu)
NM_004320.5(ATP2A1):c.2959G>A (p.Val987Ile)
NM_004320.5(ATP2A1):c.295A>C (p.Ile99Leu)
NM_004320.5(ATP2A1):c.296T>C (p.Ile99Thr)
NM_004320.5(ATP2A1):c.325-2A>T rs1567479853
NM_004320.5(ATP2A1):c.328C>T (p.Arg110Trp)
NM_004320.5(ATP2A1):c.329G>A (p.Arg110Gln)
NM_004320.5(ATP2A1):c.362A>G (p.Glu121Gly) rs1555514985
NM_004320.5(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772
NM_004320.5(ATP2A1):c.433A>G (p.Ile145Val) rs1307339770
NM_004320.5(ATP2A1):c.450C>T (p.Ile150=) rs781369773
NM_004320.5(ATP2A1):c.479C>T (p.Pro160Leu)
NM_004320.5(ATP2A1):c.521G>A (p.Arg174Gln)
NM_004320.5(ATP2A1):c.53_56TGAG[1] (p.Ser19fs) rs770239154
NM_004320.5(ATP2A1):c.550T>G (p.Ser184Ala) rs1567482317
NM_004320.5(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113
NM_004320.5(ATP2A1):c.629C>T (p.Ser210Leu)
NM_004320.5(ATP2A1):c.663C>G (p.Gly221=) rs113803159
NM_004320.5(ATP2A1):c.675C>T (p.Thr225=) rs753160368
NM_004320.5(ATP2A1):c.678T>C (p.Thr226=) rs6565259
NM_004320.5(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350
NM_004320.5(ATP2A1):c.78G>A (p.Pro26=) rs886051878
NM_004320.5(ATP2A1):c.839A>G (p.Asn280Ser) rs143777158
NM_004320.5(ATP2A1):c.840C>T (p.Asn280=) rs145160426
NM_004320.5(ATP2A1):c.868C>T (p.Arg290Cys)
NM_004320.5(ATP2A1):c.869G>A (p.Arg290His)
NM_004320.5(ATP2A1):c.870C>T (p.Arg290=) rs201786788
NM_004320.5(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) rs1555515558
NM_004320.5(ATP2A1):c.915T>G (p.Ala305=) rs1555515559
NM_004320.5(ATP2A1):c.937G>A (p.Ala313Thr) rs762549353
NM_004320.5(ATP2A1):c.971G>A (p.Arg324His)
NM_004320.5(ATP2A1):c.974G>A (p.Arg325Gln)
NM_024816.3(RABEP2):c.*440G>A rs114173613
NM_024816.3(RABEP2):c.*451C>T rs886051885

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