ClinVar Miner

List of variants in gene ATP2A1 reported as benign for Brody myopathy

Included ClinVar conditions (1):
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Total variants: 24
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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_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.2611-11C>G rs149389025 0.00657
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.1974C>T (p.Phe658=) rs61626938 0.00306
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388 0.00255
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) rs148925426 0.00125
NM_004320.6(ATP2A1):c.2101-8T>G rs200246286 0.00061
NM_004320.6(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808 0.00051
NM_004320.6(ATP2A1):c.630+16C>G rs139443632 0.00049
NM_004320.6(ATP2A1):c.1185-11C>T rs780795453 0.00032
NM_004320.6(ATP2A1):c.*51A>G rs544392212 0.00013
NM_004320.6(ATP2A1):c.870C>T (p.Arg290=) rs201786788 0.00012
NM_004320.6(ATP2A1):c.1113G>A (p.Lys371=) rs199557273 0.00004
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004320.6(ATP2A1):c.2863-9del rs754787368
NM_004320.6(ATP2A1):c.929-23_929-12del rs551640234

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