ClinVar Miner

List of variants reported as likely benign for Senior-Loken syndrome 5 by Illumina Laboratory Services, Illumina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
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.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006

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