ClinVar Miner

List of variants reported as benign for Brody myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_004320.5(ATP2A1):c.1167C>T (p.Tyr389=) rs41292388
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.1764+6del rs66716803
NM_004320.5(ATP2A1):c.1809G>A (p.Pro603=) rs151309999
NM_004320.5(ATP2A1):c.1948G>A (p.Asp650Asn) rs74573581
NM_004320.5(ATP2A1):c.1974C>T (p.Phe658=) rs61626938
NM_004320.5(ATP2A1):c.2101-8T>G rs200246286
NM_004320.5(ATP2A1):c.2524+3G>T rs2071341
NM_004320.5(ATP2A1):c.2536G>A (p.Ala846Thr) rs186012808
NM_004320.5(ATP2A1):c.663C>G (p.Gly221=) rs113803159
NM_004320.5(ATP2A1):c.839A>G (p.Asn280Ser) rs143777158
NM_004320.5(ATP2A1):c.870C>T (p.Arg290=) rs201786788

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