ClinVar Miner

List of variants reported for Intellectual disability by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met) rs773936260 0.00005
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp) rs373270554 0.00004
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) rs758546717 0.00002
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys) rs1282488329 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser) rs779203584 0.00001
NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr) rs1928397782
NM_001083961.2(WDR62):c.2520+5G>T rs754976942
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs) rs1973468140
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) rs1951071576
NM_001394998.1(TANC2):c.3765+1G>T rs2048707664
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) rs2038452898
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_004879.5(EI24):c.742C>T (p.Pro248Ser) rs1938981293
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn) rs754901294
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs) rs2057404166
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs) rs1907323150
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter) rs1846799593
NM_024298.5(MBOAT7):c.251del (p.Leu84fs) rs2076453977
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val) rs778171763
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg) rs764279982
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp) rs1822581744

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