ClinVar Miner

List of variants in gene PLEKHG2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_022835.3(PLEKHG2):c.2308G>A (p.Ala770Thr) rs111487768 0.00638
NM_022835.3(PLEKHG2):c.2901G>A (p.Pro967=) rs113732286 0.00592
NM_022835.3(PLEKHG2):c.3889G>C (p.Gly1297Arg) rs202077408 0.00309
NM_022835.3(PLEKHG2):c.406G>A (p.Gly136Arg) rs141910004 0.00277
NM_022835.3(PLEKHG2):c.1386G>A (p.Gly462=) rs149311978 0.00271
NM_022835.3(PLEKHG2):c.4131G>A (p.Gln1377=) rs31729 0.00268
NM_022835.3(PLEKHG2):c.4103A>G (p.Gln1368Arg) rs202010025 0.00217
NM_022835.3(PLEKHG2):c.621G>C (p.Ser207=) rs141195795 0.00175
NM_022835.3(PLEKHG2):c.1184A>G (p.Asn395Ser) rs139883194 0.00112
NM_022835.3(PLEKHG2):c.955G>A (p.Ala319Thr) rs139956595 0.00111
NM_022835.3(PLEKHG2):c.128T>C (p.Met43Thr) rs45441295 0.00068
NM_022835.3(PLEKHG2):c.2383G>A (p.Asp795Asn) rs114741660 0.00067
NM_022835.3(PLEKHG2):c.215G>T (p.Cys72Phe) rs554874064 0.00064
NM_022835.3(PLEKHG2):c.1104C>T (p.Ser368=) rs146672674 0.00041
NM_022835.3(PLEKHG2):c.472T>C (p.Phe158Leu) rs201038820 0.00038
NM_022835.3(PLEKHG2):c.2531G>C (p.Arg844Pro) rs201914405 0.00036
NM_022835.3(PLEKHG2):c.1722G>T (p.Val574=) rs149499627 0.00032
NM_022835.3(PLEKHG2):c.372C>T (p.Ile124=) rs371024192 0.00028
NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr) rs372208970 0.00022
NM_022835.3(PLEKHG2):c.765G>A (p.Ala255=) rs142309421 0.00021
NM_022835.3(PLEKHG2):c.110-7C>T rs762298375 0.00020
NM_022835.3(PLEKHG2):c.3009C>T (p.Ala1003=) rs138826809 0.00019
NM_022835.3(PLEKHG2):c.479+12G>T rs201406719 0.00018
NM_022835.3(PLEKHG2):c.1503+15G>A rs111972446 0.00016
NM_022835.3(PLEKHG2):c.1263+14C>T rs200390175 0.00015
NM_022835.3(PLEKHG2):c.3573C>G (p.Val1191=) rs150926148 0.00013
NM_022835.3(PLEKHG2):c.636A>T (p.Ala212=) rs374648694 0.00013
NM_022835.3(PLEKHG2):c.1074C>T (p.Gly358=) rs370423704 0.00011
NM_022835.3(PLEKHG2):c.4032C>T (p.Gly1344=) rs371467706 0.00009
NM_022835.3(PLEKHG2):c.1486+14C>G rs368356438 0.00007
NM_022835.3(PLEKHG2):c.3617C>A (p.Ala1206Asp) rs200942258 0.00007
NM_022835.3(PLEKHG2):c.555T>C (p.Asp185=) rs762122588 0.00007
NM_022835.3(PLEKHG2):c.1448-4G>A rs370929346 0.00006
NM_022835.3(PLEKHG2):c.3720A>T (p.Pro1240=) rs150340180 0.00006
NM_022835.3(PLEKHG2):c.4026C>T (p.His1342=) rs541866150 0.00006
NM_022835.3(PLEKHG2):c.504C>T (p.Asn168=) rs562119329 0.00006
NM_022835.3(PLEKHG2):c.3000A>G (p.Pro1000=) rs778294214 0.00005
NM_022835.3(PLEKHG2):c.4049G>A (p.Arg1350Gln) rs575442119 0.00005
NM_022835.3(PLEKHG2):c.1137G>A (p.Val379=) rs766212173 0.00004
NM_022835.3(PLEKHG2):c.1263+15G>A rs781221602 0.00004
NM_022835.3(PLEKHG2):c.1380C>T (p.Thr460=) rs201041534 0.00004
NM_022835.3(PLEKHG2):c.441G>A (p.Thr147=) rs778744974 0.00004
NM_022835.3(PLEKHG2):c.1399+9G>A rs780672220 0.00003
NM_022835.3(PLEKHG2):c.2599+10G>A rs201713310 0.00003
NM_022835.3(PLEKHG2):c.3006C>T (p.Thr1002=) rs761237453 0.00003
NM_022835.3(PLEKHG2):c.378+7C>T rs368379229 0.00003
NM_022835.3(PLEKHG2):c.4011G>A (p.Thr1337=) rs753255489 0.00003
NM_022835.3(PLEKHG2):c.570A>G (p.Thr190=) rs573475595 0.00003
NM_022835.3(PLEKHG2):c.744+18G>A rs368796640 0.00003
NM_022835.3(PLEKHG2):c.3432A>G (p.Thr1144=) rs764127967 0.00002
NM_022835.3(PLEKHG2):c.789C>T (p.Arg263=) rs759041640 0.00002
NM_022835.3(PLEKHG2):c.921G>A (p.Glu307=) rs934004942 0.00002
NM_022835.3(PLEKHG2):c.1448-5C>T rs374476765 0.00001
NM_022835.3(PLEKHG2):c.150G>C (p.Gly50=) rs1176285001 0.00001
NM_022835.3(PLEKHG2):c.1521G>A (p.Gly507=) rs747031640 0.00001
NM_022835.3(PLEKHG2):c.1758G>C (p.Leu586=) rs1320721651 0.00001
NM_022835.3(PLEKHG2):c.2127G>A (p.Arg709=) rs767210419 0.00001
NM_022835.3(PLEKHG2):c.2683C>T (p.Pro895Ser) rs200143824 0.00001
NM_022835.3(PLEKHG2):c.324G>C (p.Arg108=) rs1265693369 0.00001
NM_022835.3(PLEKHG2):c.3294A>G (p.Pro1098=) rs750823730 0.00001
NM_022835.3(PLEKHG2):c.3528G>A (p.Ala1176=) rs771363402 0.00001
NM_022835.3(PLEKHG2):c.366C>G (p.Arg122=) rs764040622 0.00001
NM_022835.3(PLEKHG2):c.3771G>A (p.Thr1257=) rs201352095 0.00001
NM_022835.3(PLEKHG2):c.51C>T (p.Leu17=) rs1199893811 0.00001
NM_022835.3(PLEKHG2):c.547-13A>G rs771632897 0.00001
NM_022835.3(PLEKHG2):c.678G>A (p.Ser226=) rs756829121 0.00001
NM_022835.3(PLEKHG2):c.948G>A (p.Leu316=) rs1364004764 0.00001
NM_022835.3(PLEKHG2):c.981C>G (p.Gly327=) rs757064267 0.00001
NM_022835.3(PLEKHG2):c.1002G>A (p.Glu334=)
NM_022835.3(PLEKHG2):c.1011C>G (p.Leu337=)
NM_022835.3(PLEKHG2):c.1035G>A (p.Leu345=)
NM_022835.3(PLEKHG2):c.1053G>A (p.Gly351=)
NM_022835.3(PLEKHG2):c.1083+15G>A
NM_022835.3(PLEKHG2):c.1084-14C>T
NM_022835.3(PLEKHG2):c.1084-20A>G
NM_022835.3(PLEKHG2):c.109+11A>C
NM_022835.3(PLEKHG2):c.1128G>A (p.Gly376=)
NM_022835.3(PLEKHG2):c.114T>C (p.Pro38=)
NM_022835.3(PLEKHG2):c.1177-12A>C
NM_022835.3(PLEKHG2):c.123C>A (p.Pro41=)
NM_022835.3(PLEKHG2):c.1260C>G (p.Ala420=)
NM_022835.3(PLEKHG2):c.1263+16C>T
NM_022835.3(PLEKHG2):c.1263+9C>T
NM_022835.3(PLEKHG2):c.1297+12C>T
NM_022835.3(PLEKHG2):c.1298-19C>T
NM_022835.3(PLEKHG2):c.1329C>T (p.Pro443=)
NM_022835.3(PLEKHG2):c.138C>G (p.Pro46=) rs144626871
NM_022835.3(PLEKHG2):c.138C>T (p.Pro46=) rs144626871
NM_022835.3(PLEKHG2):c.1401T>G (p.Ala467=)
NM_022835.3(PLEKHG2):c.1446T>C (p.Ser482=)
NM_022835.3(PLEKHG2):c.1486+15C>T
NM_022835.3(PLEKHG2):c.1486+16G>A
NM_022835.3(PLEKHG2):c.1503+14C>T
NM_022835.3(PLEKHG2):c.1504-8C>T rs2146008579
NM_022835.3(PLEKHG2):c.1504-9T>C
NM_022835.3(PLEKHG2):c.15C>T (p.Ala5=)
NM_022835.3(PLEKHG2):c.1617G>C (p.Gly539=) rs2146009333
NM_022835.3(PLEKHG2):c.1678-10C>G rs745882083
NM_022835.3(PLEKHG2):c.1680G>A (p.Pro560=)
NM_022835.3(PLEKHG2):c.1707C>T (p.Pro569=) rs145859648
NM_022835.3(PLEKHG2):c.1734C>T (p.Ser578=)
NM_022835.3(PLEKHG2):c.1804C>T (p.Leu602=)
NM_022835.3(PLEKHG2):c.1819C>A (p.Arg607=)
NM_022835.3(PLEKHG2):c.1953C>T (p.Pro651=)
NM_022835.3(PLEKHG2):c.2020A>G (p.Ile674Val)
NM_022835.3(PLEKHG2):c.2049G>A (p.Leu683=)
NM_022835.3(PLEKHG2):c.2145G>C (p.Gly715=)
NM_022835.3(PLEKHG2):c.2172G>C (p.Pro724=)
NM_022835.3(PLEKHG2):c.2295A>G (p.Ser765=) rs2078729759
NM_022835.3(PLEKHG2):c.2301C>A (p.Ile767=)
NM_022835.3(PLEKHG2):c.2319A>G (p.Ala773=)
NM_022835.3(PLEKHG2):c.2362C>T (p.Leu788=)
NM_022835.3(PLEKHG2):c.2407G>A (p.Gly803Arg)
NM_022835.3(PLEKHG2):c.2475C>T (p.Ser825=)
NM_022835.3(PLEKHG2):c.2529G>A (p.Pro843=)
NM_022835.3(PLEKHG2):c.252C>T (p.Pro84=)
NM_022835.3(PLEKHG2):c.2599+12G>A
NM_022835.3(PLEKHG2):c.2643C>A (p.Ala881=)
NM_022835.3(PLEKHG2):c.2736G>A (p.Pro912=)
NM_022835.3(PLEKHG2):c.2749C>T (p.Leu917=)
NM_022835.3(PLEKHG2):c.2793C>T (p.His931=)
NM_022835.3(PLEKHG2):c.2853C>T (p.Ala951=)
NM_022835.3(PLEKHG2):c.2880C>T (p.Gly960=)
NM_022835.3(PLEKHG2):c.3003C>T (p.Ser1001=)
NM_022835.3(PLEKHG2):c.300C>G (p.Pro100=) rs1424253028
NM_022835.3(PLEKHG2):c.3303C>T (p.Leu1101=)
NM_022835.3(PLEKHG2):c.3330A>C (p.Ser1110=)
NM_022835.3(PLEKHG2):c.3378C>T (p.Asn1126=)
NM_022835.3(PLEKHG2):c.3399G>A (p.Gln1133=)
NM_022835.3(PLEKHG2):c.3546G>A (p.Pro1182=)
NM_022835.3(PLEKHG2):c.3621T>C (p.His1207=)
NM_022835.3(PLEKHG2):c.3672G>A (p.Gln1224=)
NM_022835.3(PLEKHG2):c.3714C>T (p.Ser1238=)
NM_022835.3(PLEKHG2):c.3849C>T (p.Ala1283=)
NM_022835.3(PLEKHG2):c.3855T>C (p.Tyr1285=)
NM_022835.3(PLEKHG2):c.3870G>A (p.Leu1290=)
NM_022835.3(PLEKHG2):c.3912C>T (p.Ser1304=)
NM_022835.3(PLEKHG2):c.3927C>T (p.Ser1309=)
NM_022835.3(PLEKHG2):c.3930T>C (p.Ser1310=)
NM_022835.3(PLEKHG2):c.3939G>A (p.Thr1313=)
NM_022835.3(PLEKHG2):c.3954G>A (p.Ser1318=)
NM_022835.3(PLEKHG2):c.3957G>A (p.Pro1319=)
NM_022835.3(PLEKHG2):c.3958C>T (p.Pro1320Ser)
NM_022835.3(PLEKHG2):c.402C>T (p.Asp134=)
NM_022835.3(PLEKHG2):c.4069C>A (p.Arg1357=)
NM_022835.3(PLEKHG2):c.423C>T (p.Ser141=)
NM_022835.3(PLEKHG2):c.42C>G (p.Ser14Arg) rs576060981
NM_022835.3(PLEKHG2):c.479+10del
NM_022835.3(PLEKHG2):c.479+15G>A
NM_022835.3(PLEKHG2):c.479+17del
NM_022835.3(PLEKHG2):c.480-16C>T
NM_022835.3(PLEKHG2):c.480-17T>G
NM_022835.3(PLEKHG2):c.516C>T (p.Ala172=)
NM_022835.3(PLEKHG2):c.531G>A (p.Glu177=)
NM_022835.3(PLEKHG2):c.547-20G>A
NM_022835.3(PLEKHG2):c.547-9C>T rs1600648407
NM_022835.3(PLEKHG2):c.549C>T (p.Ser183=)
NM_022835.3(PLEKHG2):c.591G>A (p.Pro197=)
NM_022835.3(PLEKHG2):c.594-15G>C rs2078612840
NM_022835.3(PLEKHG2):c.621G>A (p.Ser207=) rs141195795
NM_022835.3(PLEKHG2):c.677C>G (p.Ser226Trp)
NM_022835.3(PLEKHG2):c.696C>T (p.Phe232=) rs1375389012
NM_022835.3(PLEKHG2):c.699G>A (p.Leu233=)
NM_022835.3(PLEKHG2):c.723C>T (p.Leu241=)
NM_022835.3(PLEKHG2):c.741G>A (p.Leu247=)
NM_022835.3(PLEKHG2):c.798G>A (p.Val266=)
NM_022835.3(PLEKHG2):c.882+8del rs571854709
NM_022835.3(PLEKHG2):c.883-18C>G
NM_022835.3(PLEKHG2):c.883-6C>T
NM_022835.3(PLEKHG2):c.895C>A (p.Arg299=)
NM_022835.3(PLEKHG2):c.954C>T (p.Gly318=)
NM_022835.3(PLEKHG2):c.957G>A (p.Ala319=) rs113017292
NM_022835.3(PLEKHG2):c.957G>T (p.Ala319=) rs113017292
NM_022835.3(PLEKHG2):c.969C>T (p.Gly323=)

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