ClinVar Miner

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

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Gene type:
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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.3035-119A>G rs114964592 0.03415
NM_000702.4(ATP1A2):c.1461+91G>C rs17846712 0.02844
NM_000702.4(ATP1A2):c.178-79G>A rs114734823 0.01470
NM_000702.4(ATP1A2):c.3035-284A>T rs115534019 0.01439
NM_000702.4(ATP1A2):c.2840+36G>A rs111331208 0.01293
NM_000702.4(ATP1A2):c.2440-26C>T rs139806083 0.01158
NM_000702.4(ATP1A2):c.1827+38C>T rs115534398 0.01157
NM_000702.4(ATP1A2):c.3035-286G>A rs148661763 0.01097
NM_000702.4(ATP1A2):c.3034+275C>T rs74507601 0.00798
NM_000702.4(ATP1A2):c.117+83G>A rs146329414 0.00780
NM_000702.4(ATP1A2):c.1216+48G>A rs189922200 0.00686
NM_000702.4(ATP1A2):c.749-210A>G rs12071868 0.00597
NM_000702.4(ATP1A2):c.1827+134A>G rs74494644 0.00464
NM_000702.4(ATP1A2):c.*932T>C rs183455719 0.00347
NM_000702.4(ATP1A2):c.1965-130G>T rs185387179 0.00336
NM_000702.4(ATP1A2):c.2943-75C>G rs372451075 0.00324
NM_000702.4(ATP1A2):c.1965-189T>C rs150879821 0.00322
NM_000702.4(ATP1A2):c.177+21G>C rs200558091 0.00307
NM_000702.4(ATP1A2):c.12+80G>T rs372906753 0.00305
NM_000702.4(ATP1A2):c.178-21C>T rs199660548 0.00076
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000702.4(ATP1A2):c.1964+14A>G rs201131020 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.381+12C>T rs368856029 0.00014
NM_000702.4(ATP1A2):c.2790C>T (p.Asp930=) rs376259974 0.00012
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
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.2440-14C>T rs200630442 0.00010
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288 0.00009
NM_000702.4(ATP1A2):c.2070G>A (p.Thr690=) rs142865268 0.00008
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.381T>C (p.Asn127=) rs139243866 0.00007
NM_000702.4(ATP1A2):c.-14C>G rs756960901 0.00006
NM_000702.4(ATP1A2):c.-31C>G rs192111085 0.00006
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00006
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.2115+15G>A rs769939965 0.00005
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.2151C>T (p.Asn717=) rs140707454 0.00004
NM_000702.4(ATP1A2):c.2562C>T (p.Ile854=) rs371086182 0.00004
NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met) rs371257019 0.00004
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651 0.00003
NM_000702.4(ATP1A2):c.2103A>T (p.Gly701=) rs963491650 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030 0.00003
NM_000702.4(ATP1A2):c.2439+13G>A rs1038003940 0.00003
NM_000702.4(ATP1A2):c.2710-19C>G rs757662486 0.00003
NM_000702.4(ATP1A2):c.2942+19C>T rs187187416 0.00003
NM_000702.4(ATP1A2):c.36C>T (p.Ala12=) rs767913105 0.00003
NM_000702.4(ATP1A2):c.1496G>A (p.Ser499Asn) rs767230468 0.00002
NM_000702.4(ATP1A2):c.1500C>T (p.His500=) rs140480795 0.00002
NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) rs376128790 0.00002
NM_000702.4(ATP1A2):c.1710G>A (p.Thr570=) rs536168465 0.00002
NM_000702.4(ATP1A2):c.1815C>T (p.Ser605=) rs771651622 0.00002
NM_000702.4(ATP1A2):c.2088C>T (p.Leu696=) rs151052102 0.00002
NM_000702.4(ATP1A2):c.2115+19G>A rs375635569 0.00002
NM_000702.4(ATP1A2):c.2942+16G>A rs776114360 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_000702.4(ATP1A2):c.*6T>C rs796052273 0.00001
NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=) rs747219922 0.00001
NM_000702.4(ATP1A2):c.1158C>T (p.Val386=) rs752381925 0.00001
NM_000702.4(ATP1A2):c.1216+12C>T rs748392461 0.00001
NM_000702.4(ATP1A2):c.1327-12C>G rs903572955 0.00001
NM_000702.4(ATP1A2):c.1473C>T (p.His491=) rs768902765 0.00001
NM_000702.4(ATP1A2):c.1590G>A (p.Glu530=) rs1042062045 0.00001
NM_000702.4(ATP1A2):c.1989C>T (p.His663=) rs765006961 0.00001
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089 0.00001
NM_000702.4(ATP1A2):c.2427G>A (p.Leu809=) rs369916877 0.00001
NM_000702.4(ATP1A2):c.2636G>A (p.Arg879Gln) rs761597771 0.00001
NM_000702.4(ATP1A2):c.2709+17A>G rs961165805 0.00001
NM_000702.4(ATP1A2):c.2895C>G (p.Leu965=) rs200706103 0.00001
NM_000702.4(ATP1A2):c.291G>T (p.Gly97=) rs759566498 0.00001
NM_000702.4(ATP1A2):c.381+13G>A rs772082739 0.00001
NM_000702.4(ATP1A2):c.495+9G>T rs1057522630 0.00001
NM_000702.4(ATP1A2):c.888C>T (p.Val296=) rs767314566 0.00001
NC_000001.11:g.160115676_160115687del rs200353688
NC_000001.11:g.160115692G>C rs115471871
NM_000702.4(ATP1A2):c.-30G>A rs759542448
NM_000702.4(ATP1A2):c.-33C>A rs1323771499
NM_000702.4(ATP1A2):c.1017+9G>T rs1057521623
NM_000702.4(ATP1A2):c.1018-15_1018-13del rs1064795923
NM_000702.4(ATP1A2):c.108G>A (p.Glu36=) rs1553244021
NM_000702.4(ATP1A2):c.1155C>A (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.1182A>G (p.Gln394=) rs1553244893
NM_000702.4(ATP1A2):c.1251G>A (p.Thr417=) rs142309356
NM_000702.4(ATP1A2):c.1263A>G (p.Arg421=) rs1057523616
NM_000702.4(ATP1A2):c.1311C>T (p.Asn437=) rs1057521266
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1462-5T>A rs796052272
NM_000702.4(ATP1A2):c.1647G>T (p.Val549=) rs1553245135
NM_000702.4(ATP1A2):c.1652-6C>T rs768543626
NM_000702.4(ATP1A2):c.1740T>G (p.Leu580=) rs978157409
NM_000702.4(ATP1A2):c.177+20G>C rs1475100565
NM_000702.4(ATP1A2):c.1779G>A (p.Arg593=) rs1553245179
NM_000702.4(ATP1A2):c.1930C>A (p.Arg644=) rs150784486
NM_000702.4(ATP1A2):c.1959C>T (p.Asn653=) rs768301089
NM_000702.4(ATP1A2):c.1962C>G (p.Pro654=) rs1057523083
NM_000702.4(ATP1A2):c.2148G>A (p.Val716=) rs1057523552
NM_000702.4(ATP1A2):c.2563+17G>A rs1553245863
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2589C>T (p.Phe863=) rs760872961
NM_000702.4(ATP1A2):c.2709+89del rs71804001
NM_000702.4(ATP1A2):c.2841-7C>T rs1057521032
NM_000702.4(ATP1A2):c.381+13G>T rs772082739
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942

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