ClinVar Miner

List of variants in gene ATP1A3 reported as likely benign for alternating hemiplegia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_152296.5(ATP1A3):c.*106T>C rs180885057
NM_152296.5(ATP1A3):c.*236T>C rs199854166
NM_152296.5(ATP1A3):c.*298C>T rs781980860
NM_152296.5(ATP1A3):c.*315G>A rs571857150
NM_152296.5(ATP1A3):c.-64A>G rs373531937
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170
NM_152296.5(ATP1A3):c.154-5C>G rs191645384
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152296.5(ATP1A3):c.994-3C>G rs377256877

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