ClinVar Miner

List of variants in gene PIK3AP1 reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) rs146527410 0.00156
NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe) rs147376017 0.00069
NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) rs145525421 0.00062
NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) rs199720844 0.00034
NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met) rs45587542 0.00032
NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=) rs199687287 0.00029
NM_152309.3(PIK3AP1):c.1302G>A (p.Ser434=) rs140843691 0.00022
NM_152309.3(PIK3AP1):c.568-16C>T rs369779741 0.00020
NM_152309.3(PIK3AP1):c.989-12G>C rs201975171 0.00019
NM_152309.3(PIK3AP1):c.729C>T (p.Asn243=) rs571900807 0.00017
NM_152309.3(PIK3AP1):c.285G>T (p.Pro95=) rs777298829 0.00016
NM_152309.3(PIK3AP1):c.1492A>G (p.Asn498Asp) rs746475285 0.00014
NM_152309.3(PIK3AP1):c.1941+13G>A rs369291853 0.00011
NM_152309.3(PIK3AP1):c.405A>G (p.Ala135=) rs376969413 0.00008
NM_152309.3(PIK3AP1):c.633G>A (p.Glu211=) rs372013145 0.00008
NM_152309.3(PIK3AP1):c.1077A>G (p.Pro359=) rs751495080 0.00007
NM_152309.3(PIK3AP1):c.1693C>T (p.Arg565Trp) rs534613715 0.00006
NM_152309.3(PIK3AP1):c.1744G>A (p.Val582Ile) rs201358424 0.00006
NM_152309.3(PIK3AP1):c.2238C>T (p.Asn746=) rs148107187 0.00006
NM_152309.3(PIK3AP1):c.60C>T (p.Ala20=) rs201085961 0.00006
NM_152309.3(PIK3AP1):c.1098C>T (p.Ser366=) rs370396990 0.00005
NM_152309.3(PIK3AP1):c.1137T>C (p.Ala379=) rs762383625 0.00005
NM_152309.3(PIK3AP1):c.712+18A>G rs375742773 0.00005
NM_152309.3(PIK3AP1):c.936C>T (p.Ser312=) rs763294320 0.00005
NM_152309.3(PIK3AP1):c.1191G>A (p.Thr397=) rs753965309 0.00004
NM_152309.3(PIK3AP1):c.1621G>A (p.Ala541Thr) rs367613610 0.00004
NM_152309.3(PIK3AP1):c.1710C>T (p.Tyr570=) rs754985674 0.00004
NM_152309.3(PIK3AP1):c.1730G>C (p.Arg577Thr) rs199933936 0.00004
NM_152309.3(PIK3AP1):c.1743C>T (p.Pro581=) rs150030424 0.00004
NM_152309.3(PIK3AP1):c.1881C>G (p.Leu627=) rs753071212 0.00004
NM_152309.3(PIK3AP1):c.567+10G>C rs367980584 0.00004
NM_152309.3(PIK3AP1):c.568-15G>A rs575594175 0.00004
NM_152309.3(PIK3AP1):c.2014+17G>C rs752466455 0.00003
NM_152309.3(PIK3AP1):c.2015-6T>A rs775761112 0.00003
NM_152309.3(PIK3AP1):c.900G>C (p.Leu300=) rs370579298 0.00003
NM_152309.3(PIK3AP1):c.1083C>T (p.Ala361=) rs766566195 0.00002
NM_152309.3(PIK3AP1):c.1146C>T (p.His382=) rs769390249 0.00002
NM_152309.3(PIK3AP1):c.1471+9T>C rs779450561 0.00002
NM_152309.3(PIK3AP1):c.1650C>T (p.Asn550=) rs749043096 0.00002
NM_152309.3(PIK3AP1):c.915G>A (p.Leu305=) rs760573991 0.00002
NM_152309.3(PIK3AP1):c.1014C>A (p.Thr338=) rs374819025 0.00001
NM_152309.3(PIK3AP1):c.1162C>A (p.Arg388=) rs1291249415 0.00001
NM_152309.3(PIK3AP1):c.1257C>T (p.Tyr419=) rs776232557 0.00001
NM_152309.3(PIK3AP1):c.1471+14A>G rs771532503 0.00001
NM_152309.3(PIK3AP1):c.1472-14C>T rs767738933 0.00001
NM_152309.3(PIK3AP1):c.1472-8G>A rs774832922 0.00001
NM_152309.3(PIK3AP1):c.147C>T (p.Pro49=) rs557918551 0.00001
NM_152309.3(PIK3AP1):c.1545G>A (p.Thr515=) rs375373941 0.00001
NM_152309.3(PIK3AP1):c.1590C>A (p.Pro530=) rs1363813166 0.00001
NM_152309.3(PIK3AP1):c.1920G>A (p.Ser640=) rs200684467 0.00001
NM_152309.3(PIK3AP1):c.1942-10T>C rs767405565 0.00001
NM_152309.3(PIK3AP1):c.2073T>C (p.Phe691=) rs766208052 0.00001
NM_152309.3(PIK3AP1):c.2170+11G>A rs1292350732 0.00001
NM_152309.3(PIK3AP1):c.2170+14G>A rs1356906937 0.00001
NM_152309.3(PIK3AP1):c.2214G>T (p.Val738=) rs752844654 0.00001
NM_152309.3(PIK3AP1):c.2220C>T (p.Ser740=) rs767807459 0.00001
NM_152309.3(PIK3AP1):c.2241+13A>T rs1283162856 0.00001
NM_152309.3(PIK3AP1):c.2298T>C (p.Asp766=) rs1370881954 0.00001
NM_152309.3(PIK3AP1):c.2367G>A (p.Pro789=) rs776649790 0.00001
NM_152309.3(PIK3AP1):c.507G>C (p.Leu169=) rs1227973829 0.00001
NM_152309.3(PIK3AP1):c.512C>T (p.Thr171Met) rs567912958 0.00001
NM_152309.3(PIK3AP1):c.567+8C>T rs756216607 0.00001
NM_152309.3(PIK3AP1):c.568-7G>A rs377765234 0.00001
NM_152309.3(PIK3AP1):c.75G>A (p.Gln25=) rs202093664 0.00001
NM_152309.3(PIK3AP1):c.771A>G (p.Glu257=) rs934060056 0.00001
NM_152309.3(PIK3AP1):c.789T>C (p.Tyr263=) rs567664840 0.00001
NM_152309.3(PIK3AP1):c.831G>A (p.Ala277=) rs761608807 0.00001
NM_152309.3(PIK3AP1):c.951T>C (p.Phe317=) rs1332271762 0.00001
NM_152309.3(PIK3AP1):c.1032G>A (p.Ala344=) rs562494094
NM_152309.3(PIK3AP1):c.1032G>T (p.Ala344=)
NM_152309.3(PIK3AP1):c.1068C>T (p.Leu356=)
NM_152309.3(PIK3AP1):c.1092G>C (p.Ala364=)
NM_152309.3(PIK3AP1):c.1176C>T (p.Asp392=)
NM_152309.3(PIK3AP1):c.1186-15C>T rs2134228489
NM_152309.3(PIK3AP1):c.1186-17C>T
NM_152309.3(PIK3AP1):c.1227G>C (p.Leu409=) rs2134228418
NM_152309.3(PIK3AP1):c.1233C>T (p.His411=)
NM_152309.3(PIK3AP1):c.1242G>A (p.Glu414=)
NM_152309.3(PIK3AP1):c.127C>T (p.Leu43=) rs2134291490
NM_152309.3(PIK3AP1):c.1281A>T (p.Thr427=)
NM_152309.3(PIK3AP1):c.135C>T (p.His45=)
NM_152309.3(PIK3AP1):c.1376-6T>G
NM_152309.3(PIK3AP1):c.14-5T>C rs2134291677
NM_152309.3(PIK3AP1):c.1461G>A (p.Lys487=) rs2134208806
NM_152309.3(PIK3AP1):c.1471+18G>A
NM_152309.3(PIK3AP1):c.1471+19C>T
NM_152309.3(PIK3AP1):c.1472-5T>C
NM_152309.3(PIK3AP1):c.1527A>G (p.Glu509=) rs1218886811
NM_152309.3(PIK3AP1):c.1536T>G (p.Val512=)
NM_152309.3(PIK3AP1):c.153C>T (p.Ala51=) rs1554963337
NM_152309.3(PIK3AP1):c.156C>T (p.Ser52=)
NM_152309.3(PIK3AP1):c.1590C>T (p.Pro530=) rs1363813166
NM_152309.3(PIK3AP1):c.1599A>G (p.Pro533=) rs2134207312
NM_152309.3(PIK3AP1):c.1669+17A>G
NM_152309.3(PIK3AP1):c.1669+7A>G rs2134207219
NM_152309.3(PIK3AP1):c.1670-9A>T
NM_152309.3(PIK3AP1):c.1695G>A (p.Arg565=) rs922297353
NM_152309.3(PIK3AP1):c.1728C>T (p.Ile576=) rs1554954774
NM_152309.3(PIK3AP1):c.1740G>A (p.Pro580=)
NM_152309.3(PIK3AP1):c.1857T>C (p.Ile619=) rs2134201181
NM_152309.3(PIK3AP1):c.1872G>A (p.Glu624=) rs2134201161
NM_152309.3(PIK3AP1):c.1881C>T (p.Leu627=) rs753071212
NM_152309.3(PIK3AP1):c.18G>A (p.Val6=)
NM_152309.3(PIK3AP1):c.192C>T (p.Thr64=) rs755769271
NM_152309.3(PIK3AP1):c.1965C>T (p.Asp655=)
NM_152309.3(PIK3AP1):c.1983G>A (p.Gln661=)
NM_152309.3(PIK3AP1):c.2014+12C>G
NM_152309.3(PIK3AP1):c.201C>T (p.Val67=) rs767322969
NM_152309.3(PIK3AP1):c.2028G>A (p.Thr676=)
NM_152309.3(PIK3AP1):c.2100A>G (p.Lys700=) rs2134189611
NM_152309.3(PIK3AP1):c.2116A>C (p.Arg706=)
NM_152309.3(PIK3AP1):c.2121G>A (p.Thr707=)
NM_152309.3(PIK3AP1):c.216C>G (p.Ser72=)
NM_152309.3(PIK3AP1):c.2170+15G>T
NM_152309.3(PIK3AP1):c.2170+17G>A rs2134189475
NM_152309.3(PIK3AP1):c.2170+18C>G rs753935989
NM_152309.3(PIK3AP1):c.2170+18C>T rs753935989
NM_152309.3(PIK3AP1):c.2171-17T>C
NM_152309.3(PIK3AP1):c.2171-20A>G rs1848957609
NM_152309.3(PIK3AP1):c.2187C>T (p.Arg729=) rs2134183432
NM_152309.3(PIK3AP1):c.2196C>G (p.Thr732=)
NM_152309.3(PIK3AP1):c.219G>A (p.Ala73=)
NM_152309.3(PIK3AP1):c.2205C>T (p.Leu735=)
NM_152309.3(PIK3AP1):c.2242-6del rs2134181291
NM_152309.3(PIK3AP1):c.2283C>T (p.Gly761=)
NM_152309.3(PIK3AP1):c.2319C>G (p.Leu773=) rs777233199
NM_152309.3(PIK3AP1):c.2352C>T (p.Ala784=) rs1390796047
NM_152309.3(PIK3AP1):c.2360+14T>C
NM_152309.3(PIK3AP1):c.2360+15G>T
NM_152309.3(PIK3AP1):c.2360+19T>A rs747096308
NM_152309.3(PIK3AP1):c.2360+19T>C
NM_152309.3(PIK3AP1):c.2360+19T>G
NM_152309.3(PIK3AP1):c.2361-17C>A rs2134172614
NM_152309.3(PIK3AP1):c.253C>T (p.Leu85=)
NM_152309.3(PIK3AP1):c.333C>T (p.Phe111=)
NM_152309.3(PIK3AP1):c.381C>T (p.Asp127=) rs1206726427
NM_152309.3(PIK3AP1):c.426C>T (p.Ser142=)
NM_152309.3(PIK3AP1):c.431-18G>A rs1409765569
NM_152309.3(PIK3AP1):c.431-5T>C
NM_152309.3(PIK3AP1):c.450C>T (p.Val150=)
NM_152309.3(PIK3AP1):c.492G>A (p.Ser164=) rs778934212
NM_152309.3(PIK3AP1):c.492G>C (p.Ser164=)
NM_152309.3(PIK3AP1):c.504C>T (p.Asn168=) rs143102361
NM_152309.3(PIK3AP1):c.510G>C (p.Pro170=) rs761536697
NM_152309.3(PIK3AP1):c.522A>C (p.Ser174=) rs776181166
NM_152309.3(PIK3AP1):c.528G>C (p.Gly176=)
NM_152309.3(PIK3AP1):c.612C>T (p.Asp204=)
NM_152309.3(PIK3AP1):c.621G>T (p.Ala207=)
NM_152309.3(PIK3AP1):c.642T>A (p.Pro214=) rs752472885
NM_152309.3(PIK3AP1):c.690C>T (p.Tyr230=) rs2134235520
NM_152309.3(PIK3AP1):c.712+14T>G rs2134235478
NM_152309.3(PIK3AP1):c.713-19T>C
NM_152309.3(PIK3AP1):c.79C>T (p.Leu27=) rs2134291563
NM_152309.3(PIK3AP1):c.813T>C (p.Asn271=)
NM_152309.3(PIK3AP1):c.855+13C>A
NM_152309.3(PIK3AP1):c.855+7A>T rs2134234166
NM_152309.3(PIK3AP1):c.856-20A>G
NM_152309.3(PIK3AP1):c.898C>T (p.Leu300=) rs1427646407
NM_152309.3(PIK3AP1):c.988+11A>G

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