ClinVar Miner

List of variants in gene IQSEC2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala) rs782469479 0.00010
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn) rs782244422 0.00003
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635 0.00002
NM_001111125.3(IQSEC2):c.708-3C>T rs781873807 0.00002
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala) rs1556865202 0.00002
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met) rs1347714754 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg) rs368559547 0.00001
NM_001111125.3(IQSEC2):c.-4C>T
NM_001111125.3(IQSEC2):c.1017G>T (p.Arg339Ser)
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
NM_001111125.3(IQSEC2):c.1301G>C (p.Gly434Ala)
NM_001111125.3(IQSEC2):c.1372A>G (p.Thr458Ala)
NM_001111125.3(IQSEC2):c.1438A>C (p.Asn480His)
NM_001111125.3(IQSEC2):c.1484A>G (p.Gln495Arg)
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln) rs2074375518
NM_001111125.3(IQSEC2):c.1925C>G (p.Pro642Arg)
NM_001111125.3(IQSEC2):c.2059G>T (p.Ala687Ser)
NM_001111125.3(IQSEC2):c.2513G>A (p.Arg838Gln) rs2074336085
NM_001111125.3(IQSEC2):c.2582+3G>T rs782493529
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) rs2074253394
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val) rs2074165930
NM_001111125.3(IQSEC2):c.31C>T (p.Pro11Ser) rs1569342169
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro) rs782632137
NM_001111125.3(IQSEC2):c.3212G>A (p.Arg1071His)
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
NM_001111125.3(IQSEC2):c.3766G>A (p.Val1256Met)
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr) rs1556859050
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) rs1556859040
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) rs1569291207
NM_001111125.3(IQSEC2):c.4310A>G (p.Tyr1437Cys)
NM_001111125.3(IQSEC2):c.4343C>T (p.Pro1448Leu)
NM_001111125.3(IQSEC2):c.565T>G (p.Ser189Ala)

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