ClinVar Miner

List of variants in gene IQSEC2 reported as pathogenic by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs) rs1556863165
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs) rs1556863090
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter) rs1556863043
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter) rs782517076
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs) rs1602277592
NM_001111125.3(IQSEC2):c.2749+1G>A rs1556862167
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2803C>T (p.Arg935Cys)
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.296del (p.His99fs) rs1064793152
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2983del (p.Arg995fs) rs1602268620
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3016-1dup rs1556860401
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter) rs1064796614
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3502-2del rs1131691650
NM_001111125.3(IQSEC2):c.3515dup (p.Ser1172fs) rs2147006430
NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter) rs1556859257
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs) rs1602257730
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter) rs1569291654
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs) rs1064793569
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter) rs1602293823
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.886del (p.Ala296fs) rs1602293563

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