ClinVar Miner

List of variants in gene CNKSR2 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter) rs2147191275
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter) rs2092414327
NM_014927.5(CNKSR2):c.1657+1G>A
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)

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