ClinVar Miner

List of variants in gene IQCB1 reported as likely pathogenic for Senior-Loken syndrome 5

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.588-2A>G rs1250919247 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.150_153del (p.Gln51fs)
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)
NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs)
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.263+1G>T
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) rs2108595322
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.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.767-2A>G rs2108566215
NM_001023570.4(IQCB1):c.780dup (p.Leu261fs)
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001023570.4(IQCB1):c.986+1G>T

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