ClinVar Miner

List of variants studied for Senior-Loken syndrome 5 by Baylor Genetics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001023570.4(IQCB1):c.100+1G>A
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)
NM_001023570.4(IQCB1):c.1129+1G>A
NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)
NM_001023570.4(IQCB1):c.1568-2A>G
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.263+1G>T
NM_001023570.4(IQCB1):c.263+201del
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.479_482del (p.Ile160fs)
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)
NM_001023570.4(IQCB1):c.487+1G>A
NM_001023570.4(IQCB1):c.488-2A>G
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)
NM_001023570.4(IQCB1):c.717dup (p.Ser240fs)
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.780dup (p.Leu261fs)
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001023570.4(IQCB1):c.986+1G>T

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