ClinVar Miner

List of variants studied for Brody myopathy by Illumina Laboratory Services, Illumina

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.*64G>A rs10499 0.74014
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) rs6565259 0.40633
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_004320.6(ATP2A1):c.-22C>T rs75273069 0.05579
NM_004320.6(ATP2A1):c.2524+3G>T rs2071341 0.01641
NM_024816.3(RABEP2):c.*440G>A rs114173613 0.01523
NM_004320.6(ATP2A1):c.1619C>T (p.Pro540Leu) rs114675305 0.00923
NM_004320.6(ATP2A1):c.1809G>A (p.Pro603=) rs151309999 0.00800
NM_004320.6(ATP2A1):c.1948G>A (p.Asp650Asn) rs74573581 0.00505
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_004320.6(ATP2A1):c.839A>G (p.Asn280Ser) rs143777158 0.00407
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00255
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00054
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00051
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015 0.00049
NM_004320.6(ATP2A1):c.1185-11C>T rs780795453 0.00032
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser) rs185041245 0.00031
NM_004320.6(ATP2A1):c.*103C>T rs368850176 0.00029
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) rs376915313 0.00020
NM_004320.6(ATP2A1):c.*174A>G rs140984847 0.00018
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) rs7192781 0.00017
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) rs145043756 0.00015
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_004320.6(ATP2A1):c.-12G>A rs201334168 0.00010
NM_004320.6(ATP2A1):c.-15C>T rs761455664 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450 0.00007
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) rs142091964 0.00006
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) rs754620899 0.00006
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) rs398124555 0.00006
NM_004320.6(ATP2A1):c.*158_*159del rs540528794 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_024816.3(RABEP2):c.*451C>T rs886051885 0.00005
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) rs199557273 0.00004
NM_004320.6(ATP2A1):c.220-11C>T rs369161791 0.00004
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) rs368388257 0.00004
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) rs200531611 0.00004
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser) rs138267146 0.00003
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) rs773807881 0.00003
NM_004320.6(ATP2A1):c.2456G>A (p.Arg819His) rs780765179 0.00003
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.515C>T (p.Thr172Met) rs779457144 0.00002
NM_004320.6(ATP2A1):c.1184+12A>G rs375336581 0.00001
NM_004320.6(ATP2A1):c.2285G>A (p.Arg762His) rs886051882 0.00001
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969 0.00001
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) rs779823220 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004320.6(ATP2A1):c.675C>T (p.Thr225=) rs753160368 0.00001
NM_004320.6(ATP2A1):c.*158A>T rs1037560496
NM_004320.6(ATP2A1):c.*203G>C rs886051884
NM_004320.6(ATP2A1):c.*234T>G rs1749997734
NM_004320.6(ATP2A1):c.1176G>A (p.Glu392=) rs886051879
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.6(ATP2A1):c.1936G>A (p.Glu646Lys) rs141394193
NM_004320.6(ATP2A1):c.1941G>A (p.Glu647=) rs886051880
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) rs148957878
NM_004320.6(ATP2A1):c.2091C>G (p.Ile697Met) rs886051881
NM_004320.6(ATP2A1):c.2101-15C>T rs1964082734
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) rs1057522931
NM_004320.6(ATP2A1):c.2959G>A (p.Val987Ile) rs200445830
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) rs200445830
NM_004320.6(ATP2A1):c.41C>A (p.Ala14Asp) rs1320892017
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu) rs956847228
NM_004320.6(ATP2A1):c.78G>A (p.Pro26=) rs886051878
NM_004320.6(ATP2A1):c.937G>A (p.Ala313Thr) rs762549353

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