List of variants in gene IQSEC2 reported as likely 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: 23

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HGVS	dbSNP	gnomAD frequency
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
NM_001111125.3(IQSEC2):c.1825C>T (p.Arg609Cys)	rs1085307736
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)	rs1556862958
NM_001111125.3(IQSEC2):c.2297+5G>C	rs1602282739
NM_001111125.3(IQSEC2):c.2407A>G (p.Ile803Val)	rs1064795421
NM_001111125.3(IQSEC2):c.2579_2582+12del	rs1556862426
NM_001111125.3(IQSEC2):c.2749+2T>C	rs1602277471
NM_001111125.3(IQSEC2):c.2749+2T>G	rs1602277471
NM_001111125.3(IQSEC2):c.2815C>T (p.Arg939Cys)
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter)	rs1131691887
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.3206G>C (p.Arg1069Pro)	rs782632137
NM_001111125.3(IQSEC2):c.3277+5G>A	rs1064795725
NM_001111125.3(IQSEC2):c.3278-5C>G	rs1085307630
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)	rs1602260263
NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter)	rs1064795806
NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter)	rs1064795460
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)	rs1064795512
NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter)	rs781846571
NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs)	rs1602256663
NM_001111125.3(IQSEC2):c.4300del (p.His1434fs)	rs1064795324
NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala)	rs1556858900

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