ClinVar Miner

List of variants in gene ATP8A2 reported as likely pathogenic for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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Total variants: 19
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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.1287G>T (p.Lys429Asn)
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.2293G>T (p.Asp765Tyr) rs1064793377
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter) rs267603791
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_016529.6(ATP8A2):c.780-1G>T

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