ClinVar Miner

List of variants reported as uncertain significance for Syndromic X-linked intellectual disability Claes-Jensen type by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.3635G>A (p.Arg1212Gln) rs141544076 0.00002
NM_004187.5(KDM5C):c.3344G>A (p.Arg1115His) rs202160290 0.00001
NM_004187.5(KDM5C):c.1839G>T (p.Glu613Asp) rs2519441874
NM_004187.5(KDM5C):c.4262A>G (p.Gln1421Arg)
NM_004187.5(KDM5C):c.548A>G (p.Asn183Ser) rs1556852417
NM_004187.5(KDM5C):c.964A>G (p.Ile322Val) rs2519541824

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