List of variants in gene ATP1A3 reported as uncertain significance for optic atrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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.2146AAG[1] (p.Lys717del)	rs1064795403
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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