ClinVar Miner

List of variants reported as pathogenic for Intellectual disability, X-linked, syndromic, Houge type

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter) rs2147123782
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) rs1569261319
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) rs2092480172
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter) rs2147268813
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter) rs2147283343
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) rs606231282
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs) rs2147143428

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