ClinVar Miner

List of variants in gene ATP1A3 reported as uncertain significance for cranial nerve neuropathy

Included ClinVar conditions (197):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)

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