List of variants in gene ATP1A2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His)	rs765909830	0.00001
NM_000702.4(ATP1A2):c.1017+5G>A	rs1085307953
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe)	rs1057521630
NM_000702.4(ATP1A2):c.1135del (p.Leu379fs)	rs1570988755
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter)
NM_000702.4(ATP1A2):c.1631del (p.Gly544fs)
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln)	rs28933401
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs)	rs1064794725
NM_000702.4(ATP1A2):c.2288G>A (p.Arg763His)	rs1403515889
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys)	rs796052277
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs)	rs1064796771
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)	rs1570987954

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