ClinVar Miner

List of variants in gene ATP1A3 reported as uncertain significance for alternating hemiplegia

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_152296.4(ATP1A3):c.-186G>A rs886054478
NM_152296.5(ATP1A3):c.*280T>A rs886054472
NM_152296.5(ATP1A3):c.-130_-127GACG[3] rs879996553
NM_152296.5(ATP1A3):c.-148T>G rs769525784
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627
NM_152296.5(ATP1A3):c.153+7C>T rs782082118
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.5(ATP1A3):c.1806+14T>C rs377372631
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473
NM_152296.5(ATP1A3):c.2688+11C>A rs782430886
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.607-7C>A rs782819736
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448

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