ClinVar Miner

List of variants in gene ATP8A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) rs35540339 0.00881
NM_016529.6(ATP8A2):c.2658C>T (p.Asn886=) rs116883114 0.00459
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) rs62636611 0.00327
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His) rs201904651 0.00111
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr) rs142872070 0.00073
NM_016529.6(ATP8A2):c.2169G>A (p.Ser723=) rs41300574 0.00047
NM_016529.6(ATP8A2):c.462A>C (p.Thr154=) rs201689401 0.00014
NM_016529.6(ATP8A2):c.1397+6T>C rs199641767 0.00006
NM_016529.6(ATP8A2):c.1663A>G (p.Met555Val) rs770476415 0.00006
NM_016529.6(ATP8A2):c.942C>T (p.Asn314=) rs769066168 0.00006
NM_016529.6(ATP8A2):c.237C>T (p.Ser79=) rs772053561 0.00001
NM_016529.6(ATP8A2):c.2577C>T (p.Tyr859=) rs373776679 0.00001
NM_016529.6(ATP8A2):c.1296G>A (p.Thr432=)
NM_016529.6(ATP8A2):c.1349A>G (p.Tyr450Cys) rs1439079775
NM_016529.6(ATP8A2):c.1427G>T (p.Cys476Phe) rs1593541748
NM_016529.6(ATP8A2):c.2162T>G (p.Leu721Trp) rs2138293000
NM_016529.6(ATP8A2):c.222-4dup rs1593468888
NM_016529.6(ATP8A2):c.96G>C (p.Leu32Phe)
NM_016529.6(ATP8A2):c.998C>T (p.Ala333Val)

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