ClinVar Miner

List of variants in gene ATP1A1 studied for hypomagnesemia, seizures, and intellectual disability

Included ClinVar conditions (4):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) rs12079419 0.12034
NM_000701.8(ATP1A1):c.637-17C>T rs12079355 0.11276
NM_000701.8(ATP1A1):c.3043+38T>C rs10924083 0.08938
NM_000701.8(ATP1A1):c.2952-37C>T rs12136995 0.08895
NM_000701.8(ATP1A1):c.3043+8T>C rs12139437 0.08884
NM_000701.8(ATP1A1):c.1024-64G>A rs41464748 0.07904
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) rs11540956 0.07885
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) rs9567 0.04948
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) rs144039896 0.00060
NM_000701.8(ATP1A1):c.1024-100T>G rs56016633
NM_000701.8(ATP1A1):c.1144A>G (p.Thr382Ala)
NM_000701.8(ATP1A1):c.12+727T>A rs1199382060
NM_000701.8(ATP1A1):c.1223-32G>A rs12130872
NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)
NM_000701.8(ATP1A1):c.158G>A (p.Arg53His) rs369738549
NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met) rs1652955697
NM_000701.8(ATP1A1):c.1974-14del rs77990511
NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp) rs1436880886
NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg) rs781629728
NM_000701.8(ATP1A1):c.2660G>A (p.Arg887Gln) rs2101066038
NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg) rs1570980551
NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln)
NM_000701.8(ATP1A1):c.755-77A>T rs12134095
NM_000701.8(ATP1A1):c.821C>G (p.Ala274Gly)
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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