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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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