ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
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.1176G>A (p.Glu392=) rs886051879
NM_004320.5(ATP2A1):c.1184+12A>G rs375336581
NM_004320.5(ATP2A1):c.1185-11C>T rs780795453
NM_004320.5(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015
NM_004320.5(ATP2A1):c.1329A>G (p.Thr443=) rs376915313
NM_004320.5(ATP2A1):c.1560C>T (p.Gly520=) rs138565447
NM_004320.5(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.5(ATP2A1):c.1722G>A (p.Glu574=) rs145043756
NM_004320.5(ATP2A1):c.1764+6del rs66716803
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.188G>A (p.Arg63Gln) rs774708450
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.2082C>T (p.Tyr694=) rs749931257
NM_004320.5(ATP2A1):c.2091C>G (p.Ile697Met) rs886051881
NM_004320.5(ATP2A1):c.220-11C>T rs369161791
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.2343G>A (p.Leu781=) rs886051883
NM_004320.5(ATP2A1):c.2524+3G>T rs2071341
NM_004320.5(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969
NM_004320.5(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004320.5(ATP2A1):c.2774dup (p.Met925fs) rs398124555
NM_004320.5(ATP2A1):c.450C>T (p.Ile150=) rs781369773
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.78G>A (p.Pro26=) rs886051878
NM_004320.5(ATP2A1):c.937G>A (p.Ala313Thr) rs762549353
NM_024816.3(RABEP2):c.*440G>A rs114173613
NM_024816.3(RABEP2):c.*451C>T rs886051885

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