ClinVar Miner

List of variants reported as likely benign for SHORT syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_181523.3(PIK3R1):c.427+5C>A rs375394677 0.00088
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) rs149905863 0.00033
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607 0.00031
NM_181523.3(PIK3R1):c.917-3C>T rs566631081 0.00028
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_181523.3(PIK3R1):c.1020-19T>C rs373504515 0.00017
NM_181523.3(PIK3R1):c.334+18G>A rs181402217 0.00015
NM_181523.3(PIK3R1):c.335-17G>T rs201772482 0.00011
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=) rs781406681 0.00010
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=) rs201618039 0.00010
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=) rs771574512 0.00009
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=) rs376359156 0.00009
NM_181523.3(PIK3R1):c.1119-9T>C rs369244066 0.00008
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=) rs776598336 0.00008
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=) rs1420907388 0.00006
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu) rs368742778 0.00005
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=) rs144238662 0.00004
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=) rs374140006 0.00004
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=) rs745860837 0.00004
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=) rs775593894 0.00003
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=) rs759347287 0.00003
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=) rs781475250 0.00003
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=) rs758397455 0.00002
NM_181523.3(PIK3R1):c.1020-8C>G rs770213442 0.00001
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=) rs758102357 0.00001
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=) rs755664296 0.00001
NM_181523.3(PIK3R1):c.1300-10A>T rs377666209 0.00001
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=) rs1230274577 0.00001
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=) rs1580262909 0.00001
NM_181523.3(PIK3R1):c.1568+18T>G rs772367889 0.00001
NM_181523.3(PIK3R1):c.1568+7del rs762253615 0.00001
NM_181523.3(PIK3R1):c.1569-17G>A rs780706346 0.00001
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=) rs1747639846 0.00001
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=) rs775385667 0.00001
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=) rs972790556 0.00001
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=) rs760360348 0.00001
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=) rs779578323 0.00001
NM_181523.3(PIK3R1):c.2100C>T (p.His700=) rs1438509498 0.00001
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=) rs1454328791 0.00001
NM_181523.3(PIK3R1):c.291T>C (p.Val97=) rs751812106 0.00001
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=) rs371843549 0.00001
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) rs762006134 0.00001
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=) rs201402919 0.00001
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=) rs767073354 0.00001
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=) rs1339790364 0.00001
NM_181523.3(PIK3R1):c.540C>T (p.His180=) rs529029580 0.00001
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=) rs778360098 0.00001
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=) rs1331105445 0.00001
NM_181523.3(PIK3R1):c.634+11T>C rs1287288917 0.00001
NM_181523.3(PIK3R1):c.635-11T>A rs745306907 0.00001
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=) rs1746797017 0.00001
NM_181523.3(PIK3R1):c.837-11C>T rs1226781279 0.00001
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=) rs201809898 0.00001
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=) rs1447146494 0.00001
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=) rs781406681
NM_181523.3(PIK3R1):c.1019+16C>G
NM_181523.3(PIK3R1):c.1019+19C>T
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=) rs1747485112
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
NM_181523.3(PIK3R1):c.1118+11del
NM_181523.3(PIK3R1):c.1119-13A>T
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
NM_181523.3(PIK3R1):c.1299+9_1299+19del
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1300-13T>G
NM_181523.3(PIK3R1):c.1300-15T>A rs750356306
NM_181523.3(PIK3R1):c.1300-15T>C
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=)
NM_181523.3(PIK3R1):c.1425+11T>A
NM_181523.3(PIK3R1):c.1425+12A>G rs370702392
NM_181523.3(PIK3R1):c.1425+19T>C
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=)
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=) rs1483544920
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=) rs2112270247
NM_181523.3(PIK3R1):c.1568+10_1568+18del rs1747596001
NM_181523.3(PIK3R1):c.1568+10dup rs2112270441
NM_181523.3(PIK3R1):c.1568+13C>G rs779251252
NM_181523.3(PIK3R1):c.1569-14T>C rs2112273923
NM_181523.3(PIK3R1):c.1569-6C>T
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=) rs1227172617
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=) rs200936785
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=) rs1747643900
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=) rs1580265568
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=) rs149090706
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=) rs149090706
NM_181523.3(PIK3R1):c.1745+14A>G rs1321466058
NM_181523.3(PIK3R1):c.1745+18A>G
NM_181523.3(PIK3R1):c.1746-9G>C
NM_181523.3(PIK3R1):c.1814+8G>T
NM_181523.3(PIK3R1):c.1815-10G>A rs2112282588
NM_181523.3(PIK3R1):c.1815-17_1815-16del
NM_181523.3(PIK3R1):c.1815-6_1815-3del rs1430970566
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=) rs1580267244
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)
NM_181523.3(PIK3R1):c.1985+11C>T
NM_181523.3(PIK3R1):c.1985+19C>A
NM_181523.3(PIK3R1):c.1985+19C>T
NM_181523.3(PIK3R1):c.1985+7A>G rs781079021
NM_181523.3(PIK3R1):c.1986-11C>T
NM_181523.3(PIK3R1):c.1986-17T>C rs1254104173
NM_181523.3(PIK3R1):c.1986-19T>C rs2112289925
NM_181523.3(PIK3R1):c.1986-31_1986-19del rs2112289847
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=) rs1747788048
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=) rs149852476
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=) rs2112293555
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=)
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA rs2111966143
NM_181523.3(PIK3R1):c.334+18G>C
NM_181523.3(PIK3R1):c.334+7A>G
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=) rs2112164402
NM_181523.3(PIK3R1):c.369C>A (p.Ala123=) rs2112164504
NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)
NM_181523.3(PIK3R1):c.428-6T>C rs1746468268
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
NM_181523.3(PIK3R1):c.503-5C>T
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=) rs559414629
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=) rs780278854
NM_181523.3(PIK3R1):c.634+11T>G rs1287288917
NM_181523.3(PIK3R1):c.634+82A>G
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181523.3(PIK3R1):c.635-10A>T
NM_181523.3(PIK3R1):c.635-4G>A rs1262336304
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=) rs575150982
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=) rs2112195690
NM_181523.3(PIK3R1):c.836+14G>A
NM_181523.3(PIK3R1):c.836+8A>G rs1746799191
NM_181523.3(PIK3R1):c.837-13C>A
NM_181523.3(PIK3R1):c.837-13C>T rs3730085
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=) rs2111963982
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
NM_181523.3(PIK3R1):c.916+15G>T
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile) rs3730089

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