ClinVar Miner

List of variants reported as likely benign for Senior-Loken syndrome 5

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_001023570.4(IQCB1):c.-178C>T rs191557781 0.00949
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001023570.4(IQCB1):c.588-16T>A rs766712921 0.00010
NM_001023570.4(IQCB1):c.767-12A>G rs367899924 0.00010
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) rs146776796 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001023570.4(IQCB1):c.588-25dup rs574290389

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