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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His)	rs201904651	0.00111
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr)	rs142872070	0.00073
NM_016529.6(ATP8A2):c.1663A>G (p.Met555Val)	rs770476415	0.00006
NM_016529.6(ATP8A2):c.3415C>G (p.Arg1139Gly)	rs1021487437	0.00002
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)

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