ClinVar Miner

List of variants in gene ATP1A2 reported as likely benign for ATP1A2-related disorder

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00044
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00026
NM_000702.4(ATP1A2):c.2229C>T (p.Ala743=) rs138381089 0.00021
NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=) rs142309356 0.00010
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00005
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.2553C>T (p.Tyr851=) rs771208383 0.00003
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000702.4(ATP1A2):c.1245G>A (p.Thr415=) rs756285165 0.00001
NM_000702.4(ATP1A2):c.1332C>T (p.Asp444=) rs765455081 0.00001
NM_000702.4(ATP1A2):c.1422G>A (p.Lys474=) rs144538744 0.00001
NM_000702.4(ATP1A2):c.2319C>T (p.Ile773=) rs764544114 0.00001
NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln) rs761597771 0.00001
NM_000702.4(ATP1A2):c.888C>T (p.Val296=) rs767314566 0.00001
NM_000702.4(ATP1A2):c.2496G>A (p.Gln832=) rs751831101
NM_000702.4(ATP1A2):c.2787T>C (p.Ala929=) rs2524892018
NM_000702.4(ATP1A2):c.456C>T (p.Ser152=) rs2524856421
NM_000702.4(ATP1A2):c.749-4G>A rs1651624223

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