ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
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_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) rs2122743080
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001830.4(CLCN4):c.980G>A (p.Trp327Ter)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004586.3(RPS6KA3):c.407-1G>T
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006521.6(TFE3):c.572T>C (p.Leu191Pro)
NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_015100.4(POGZ):c.1053del (p.Ser352fs)
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020699.4(GATAD2B):c.466-1G>C
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) rs1559930732

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