List of variants in gene ATP1A2 reported as uncertain significance for developmental and epileptic encephalopathy 98

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu)	rs187733403	0.00019
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln)	rs139499540	0.00014
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn)	rs749326394	0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln)	rs745824475	0.00001
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)
NM_000702.4(ATP1A2):c.1547C>T (p.Ser516Phe)
NM_000702.4(ATP1A2):c.160C>A (p.Gln54Lys)
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg)	rs1057521886
NM_000702.4(ATP1A2):c.215G>A (p.Arg72Gln)	rs779812635
NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu)	rs1651922528
NM_000702.4(ATP1A2):c.2942+7G>C

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