ClinVar Miner

List of variants in gene ATP8A2 studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_016529.6(ATP8A2):c.3184-88G>A rs9511998 0.98717
NM_016529.6(ATP8A2):c.2384+55C>T rs2296003 0.86506
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_016529.6(ATP8A2):c.1185+71A>G rs7332442 0.65665
NM_016529.6(ATP8A2):c.2008-4G>C rs7335339 0.61047
NM_016529.6(ATP8A2):c.3183+95C>T rs2249800 0.52080
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 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.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) rs1171835963 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_016529.6(ATP8A2):c.77-2A>G rs373909734 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.1287G>T (p.Lys429Asn)
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1474-2del rs2138177530
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
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.1931A>C (p.Lys644Thr)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr) rs1064793377
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.3316dup (p.Glu1106fs)
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.649C>T (p.Gln217Ter)
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) rs2137994737
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118
NM_016529.6(ATP8A2):c.780-1G>T

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