ClinVar Miner

List of variants in gene ATP8A2 studied for Inborn genetic diseases

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1757G>A (p.Arg586Gln) rs202089005 0.00056
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_016529.6(ATP8A2):c.68C>G (p.Ser23Trp) rs200068509 0.00027
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00016
NM_016529.6(ATP8A2):c.995C>T (p.Ser332Leu) rs753899800 0.00003
NM_016529.6(ATP8A2):c.183C>A (p.Asn61Lys) rs370672539 0.00002
NM_016529.6(ATP8A2):c.3187A>G (p.Thr1063Ala) rs569017935 0.00002
NM_016529.6(ATP8A2):c.1028G>T (p.Gly343Val)
NM_016529.6(ATP8A2):c.1211A>G (p.Asn404Ser)
NM_016529.6(ATP8A2):c.1247A>T (p.Asn416Ile)
NM_016529.6(ATP8A2):c.1342G>A (p.Val448Ile) rs761451341
NM_016529.6(ATP8A2):c.1385C>T (p.Ser462Leu)
NM_016529.6(ATP8A2):c.1547G>A (p.Gly516Glu) rs867408012
NM_016529.6(ATP8A2):c.1636A>T (p.Thr546Ser) rs2039470790
NM_016529.6(ATP8A2):c.1661C>G (p.Ala554Gly)
NM_016529.6(ATP8A2):c.166C>T (p.Arg56Cys)
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1868-5dup rs764956567
NM_016529.6(ATP8A2):c.2074G>T (p.Ala692Ser) rs369685449
NM_016529.6(ATP8A2):c.215A>G (p.Gln72Arg)
NM_016529.6(ATP8A2):c.2239T>C (p.Cys747Arg)
NM_016529.6(ATP8A2):c.24C>G (p.Asp8Glu)
NM_016529.6(ATP8A2):c.2768T>C (p.Leu923Ser)
NM_016529.6(ATP8A2):c.2825G>T (p.Arg942Met)
NM_016529.6(ATP8A2):c.2840A>G (p.Tyr947Cys) rs1951636513
NM_016529.6(ATP8A2):c.2855A>G (p.Asn952Ser)
NM_016529.6(ATP8A2):c.3131T>C (p.Ile1044Thr)
NM_016529.6(ATP8A2):c.3391G>C (p.Asp1131His)
NM_016529.6(ATP8A2):c.407T>G (p.Ile136Ser)
NM_016529.6(ATP8A2):c.478G>C (p.Gly160Arg)
NM_016529.6(ATP8A2):c.497T>C (p.Met166Thr)
NM_016529.6(ATP8A2):c.643A>T (p.Ile215Leu) rs1384866263
NM_016529.6(ATP8A2):c.790C>G (p.Leu264Val)
NM_016529.6(ATP8A2):c.916A>G (p.Arg306Gly)
NM_016529.6(ATP8A2):c.943G>T (p.Val315Leu)

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