ClinVar Miner

List of variants reported as likely benign for Brody myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_004320.5(ATP2A1):c.1158C>T (p.Gly386=) rs1555516283
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.137-4C>G rs201212818
NM_004320.5(ATP2A1):c.1560C>T (p.Gly520=) rs138565447
NM_004320.5(ATP2A1):c.1765-4C>G rs757455246
NM_004320.5(ATP2A1):c.1851C>T (p.Ala617=) rs140547832
NM_004320.5(ATP2A1):c.1935C>T (p.Asn645=) rs754620899
NM_004320.5(ATP2A1):c.195C>A (p.Leu65=) rs1555514587
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.2112C>T (p.Gly704=) rs751104390
NM_004320.5(ATP2A1):c.2121C>T (p.Asp707=) rs767129999
NM_004320.5(ATP2A1):c.2535T>C (p.Gly845=) rs1291666603
NM_004320.5(ATP2A1):c.2862+9T>G rs1555517403
NM_004320.5(ATP2A1):c.2943C>T (p.Asp981=) rs146599017
NM_004320.5(ATP2A1):c.840C>T (p.Asn280=) rs145160426
NM_004320.5(ATP2A1):c.915T>G (p.Ala305=) rs1555515559

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