ClinVar Miner

List of variants in gene CNKSR2 reported as uncertain significance for Intellectual disability, X-linked, syndromic, Houge type

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu) rs1159715093 0.00004
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) rs750208984 0.00002
NM_014927.5(CNKSR2):c.176G>A (p.Arg59His) rs1397199866 0.00001
NM_014927.5(CNKSR2):c.2666C>A (p.Ala889Glu) rs893893504 0.00001
NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys) rs2091890198
NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) rs2092188951
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) rs2092208925
NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser) rs2092417660
NM_014927.5(CNKSR2):c.1844_1846del (p.Glu615del) rs2147257943
NM_014927.5(CNKSR2):c.1904+6T>C
NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del) rs770084913
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) rs1288431232
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) rs2090566346

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