ClinVar Miner

List of variants in gene IQSEC2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933 0.00033
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=) rs140023181 0.00011
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys) rs1556863213 0.00003
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) rs1556880357 0.00002
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) rs1461166570 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu) rs1556858927 0.00002
NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=) rs782511486 0.00001
NM_001111125.3(IQSEC2):c.1286G>A (p.Gly429Glu) rs936261583 0.00001
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys) rs782569979 0.00001
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=) rs782437696 0.00001
NM_001111125.3(IQSEC2):c.3560C>T (p.Pro1187Leu) rs1238193650 0.00001
NM_001243197.2(IQSEC2):c.188C>T (p.Pro63Leu) rs1224468985 0.00001
NM_001111125.3(IQSEC2):c.-6G>A
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=) rs1602383725
NM_001111125.3(IQSEC2):c.1165C>A (p.Arg389=)
NM_001111125.3(IQSEC2):c.1242C>T (p.Asp414=)
NM_001111125.3(IQSEC2):c.1373C>G (p.Thr458Arg) rs2074437274
NM_001111125.3(IQSEC2):c.1455G>C (p.Gly485=)
NM_001111125.3(IQSEC2):c.1494G>A (p.Lys498=) rs2147103672
NM_001111125.3(IQSEC2):c.1566C>A (p.Asp522Glu) rs1569302846
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1611C>T (p.Pro537=)
NM_001111125.3(IQSEC2):c.1708G>A (p.Glu570Lys) rs2147100677
NM_001111125.3(IQSEC2):c.1816C>T (p.Leu606=) rs2147099953
NM_001111125.3(IQSEC2):c.1819A>C (p.Ser607Arg)
NM_001111125.3(IQSEC2):c.1874G>A (p.Gly625Asp)
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs) rs2074372905
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val) rs1602283451
NM_001111125.3(IQSEC2):c.21C>T (p.Pro7=) rs1556880357
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2286C>T (p.Asn762=)
NM_001111125.3(IQSEC2):c.2297+5G>C rs1602282739
NM_001111125.3(IQSEC2):c.2384G>C (p.Arg795Pro)
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
NM_001111125.3(IQSEC2):c.2749+2T>G rs1602277471
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.2957G>A (p.Arg986His)
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe) rs1602268590
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del) rs1556860396
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
NM_001111125.3(IQSEC2):c.3458G>A (p.Arg1153Gln)
NM_001111125.3(IQSEC2):c.3543A>C (p.Pro1181=)
NM_001111125.3(IQSEC2):c.3549G>C (p.Pro1183=)
NM_001111125.3(IQSEC2):c.3840A>C (p.Pro1280=)
NM_001111125.3(IQSEC2):c.3852A>C (p.Pro1284=)
NM_001111125.3(IQSEC2):c.3933C>G (p.Ala1311=)
NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)
NM_001111125.3(IQSEC2):c.70C>T (p.Leu24=)
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001111125.3(IQSEC2):c.960G>A (p.Ser320=)
NM_001243197.2(IQSEC2):c.100T>C (p.Ser34Pro)
NM_001243197.2(IQSEC2):c.127G>A (p.Glu43Lys)
NM_001243197.2(IQSEC2):c.12C>G (p.Pro4=) rs1203913557
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs) rs1252463400
NM_001243197.2(IQSEC2):c.86T>G (p.Met29Arg)

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