ClinVar Miner

List of variants in gene ATP1A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.862C>T (p.His288Tyr) rs754699681 0.00022
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887 0.00020
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.915C>T (p.Phe305=) rs376035600 0.00004
NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu) rs533400580 0.00002
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640 0.00001
NM_000702.4(ATP1A2):c.1283G>A (p.Arg428His) rs746478136 0.00001
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080 0.00001
NM_000702.4(ATP1A2):c.1989C>T (p.His663=) rs765006961 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000702.4(ATP1A2):c.1084G>A (p.Val362Met)
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1173C>T (p.Phe391=)
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys) rs1651731153
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1770C>A (p.Asp590Glu)
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter) rs1469902667
NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2072C>T (p.Ser691Phe)
NM_000702.4(ATP1A2):c.2151C>A (p.Asn717Lys) rs140707454
NM_000702.4(ATP1A2):c.2387C>G (p.Pro796Arg) rs1651922528
NM_000702.4(ATP1A2):c.24G>A (p.Glu8=) rs1651373826
NM_000702.4(ATP1A2):c.2620G>A (p.Gly874Ser) rs1651959213
NM_000702.4(ATP1A2):c.2670G>C (p.Arg890=)
NM_000702.4(ATP1A2):c.2827C>T (p.Gln943Ter)
NM_000702.4(ATP1A2):c.3062del (p.Ter1021TyrextTer?) rs2102000044
NM_000702.4(ATP1A2):c.57G>T (p.Gly19=)
NM_000702.4(ATP1A2):c.805G>A (p.Ala269Thr) rs2101988379
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.960C>A (p.Ile320=)

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