List of variants in gene ATP13A3 reported as pathogenic for chronic pulmonary heart disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs)	rs1560082927	0.00001
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)	rs2108829926
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met)	rs1489314131
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs)	rs746602775
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter)	rs200914446

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