ClinVar Miner

List of variants in gene IQSEC2 reported as uncertain significance for X-linked disease

Included ClinVar conditions (311):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_001111125.3(IQSEC2):c.1401+4A>G rs1556864509
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro) rs1556863457
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His)
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu)
NM_001111125.3(IQSEC2):c.1592G>A (p.Arg531Gln) rs149027201
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu)
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala) rs1556863347
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln)
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln)
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu)
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) rs1556880350
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln)
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372
NM_001111125.3(IQSEC2):c.2781_2783CCT[1] (p.Leu929del)
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro)
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile)
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln)
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn)
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp)
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser)
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly)
NM_001111125.3(IQSEC2):c.3717_3719CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) rs1290683569
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr)
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu) rs1414926823
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro) rs1556880174
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu) rs1569291523
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser)
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp)
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) rs1556859040
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) rs1569291207
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=) rs1556880144
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys) rs1556858946
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val)
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly)
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu)
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu)
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val)
NM_001111125.3(IQSEC2):c.708-3C>T rs781873807
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His) rs368559547
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp)
NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr)
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala)
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)

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