List of variants in gene ATP8A2 reported as likely pathogenic for not provided

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr)	rs864309608	0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)	rs755133567	0.00001
NM_016529.6(ATP8A2):c.3272+1G>A	rs779337270	0.00001
GRCh37/hg19 13q12.13(chr13:26178745-26375940)x1
NM_016529.6(ATP8A2):c.1057+5G>C
NM_016529.6(ATP8A2):c.1185+5G>A	rs1435254326
NM_016529.6(ATP8A2):c.1286A>T (p.Lys429Met)	rs1057522489
NM_016529.6(ATP8A2):c.2293G>T (p.Asp765Tyr)	rs1064793377
NM_016529.6(ATP8A2):c.2568+1G>A	rs1555263787
NM_016529.6(ATP8A2):c.2754+1G>A
NM_016529.6(ATP8A2):c.3075+1G>A
NM_016529.6(ATP8A2):c.3076-2A>G	rs2138765275
NM_016529.6(ATP8A2):c.321+3_321+8del	rs1064795309
NM_016529.6(ATP8A2):c.424C>T (p.Arg142Ter)	rs1064795610
NM_016529.6(ATP8A2):c.779+2T>A	rs2038495764

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