List of variants in gene ATP8A2 reported as likely pathogenic for cerebellar ataxia, intellectual disability, and dysequilibrium

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.1058-2A>G	rs1304832284	0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	rs1304109530	0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)	rs755133567	0.00001
NM_016529.6(ATP8A2):c.3272+1G>A	rs779337270	0.00001
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1474-2del	rs2138177530
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)	rs1156904586
NM_016529.6(ATP8A2):c.1868-2A>G	rs2039720333
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)	rs1593576872
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)	rs2035763126
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)	rs1593410369
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3469+1G>C	rs763272441
NM_016529.6(ATP8A2):c.518del (p.Gly173fs)	rs2038343394

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