List of variants in gene IQSEC2 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter)	rs2074437028
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs)	rs2074383291
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.1676del (p.Pro559fs)	rs1556863340
NM_001111125.3(IQSEC2):c.1863T>G (p.Tyr621Ter)
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs)	rs2074372905
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.2563C>T (p.Arg855Ter)	rs587777261
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs)	rs1602277592
NM_001111125.3(IQSEC2):c.2680G>T (p.Asp894Tyr)
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.3163C>T (p.Arg1055Ter)	rs2147027403
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.3499G>T (p.Glu1167Ter)	rs2147009961
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.4039dup (p.Ala1347fs)	rs1064795512
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)	rs1569290954
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter)	rs1602293823
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)	rs886041481
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs)	rs1556865104
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
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs)	rs1252463400

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