ClinVar Miner

List of variants in gene ATP1A1 reported as pathogenic for disorder of metabolite absorption and transport

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg) rs781629728
NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg) rs1570980551
NM_000701.8(ATP1A1):c.905T>C (p.Leu302Pro) rs1557785499
NM_000701.8(ATP1A1):c.905T>G (p.Leu302Arg) rs1557785499
NM_000701.8(ATP1A1):c.907G>C (p.Gly303Arg) rs1557785503

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