ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) rs183018401 0.00001
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs) rs2147441408
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.292+1G>A rs2147472456
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) rs2147475642
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510
NM_004586.3(RPS6KA3):c.407-1G>T
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro) rs2148488146
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) rs2061711638

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