ClinVar Miner

List of variants in gene IQSEC2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001111125.3(IQSEC2):c.3452-22G>A rs369906117 0.00139
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys) rs1556863213 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr) rs1232612010 0.00003
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln) rs782632137 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=) rs781902812 0.00001
NM_001111125.3(IQSEC2):c.1133G>A (p.Arg378His) rs797045626
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) rs1556863435
NM_001111125.3(IQSEC2):c.201G>C (p.Leu67=) rs587780359
NM_001111125.3(IQSEC2):c.2658T>A (p.Phe886Leu) rs2147080692
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001111125.3(IQSEC2):c.3205C>A (p.Arg1069=) rs797045627
NM_001111125.3(IQSEC2):c.3617G>C (p.Gly1206Ala) rs797045628
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) rs782399288
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=) rs587780360
NM_001111125.3(IQSEC2):c.4416C>T (p.Pro1472=) rs797045631
NM_001111125.3(IQSEC2):c.942G>A (p.Lys314=) rs1556865007
NM_001111125.3(IQSEC2):c.965G>A (p.Ser322Asn) rs781915659

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