ClinVar Miner

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

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Gene type:
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Total variants: 28
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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.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
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.1275G>A (p.Arg425=) rs782511486 0.00001
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=) rs782437696 0.00001
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.1455G>C (p.Gly485=)
NM_001111125.3(IQSEC2):c.1494G>A (p.Lys498=) rs2147103672
NM_001111125.3(IQSEC2):c.1611C>T (p.Pro537=)
NM_001111125.3(IQSEC2):c.21C>T (p.Pro7=) rs1556880357
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
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.960G>A (p.Ser320=)

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