ClinVar Miner

List of variants in gene combination KANSL1, MAPT reported as likely benign for Syndromic intellectual disability

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*1047C>T rs113815715 0.02477
NM_001377265.1(MAPT):c.*2810G>A rs2158256 0.02237
NM_001377265.1(MAPT):c.*2167G>A rs16940802 0.01564
NM_001377265.1(MAPT):c.*2991C>T rs141337757 0.01116
NM_001377265.1(MAPT):c.*3435T>C rs186977284 0.00544
NM_001377265.1(MAPT):c.*2956T>C rs181844055 0.00514
NM_015443.4(KANSL1):c.*1196T>G rs137970866 0.00488
NM_015443.4(KANSL1):c.*1027C>G rs11870461 0.00390
NM_015443.4(KANSL1):c.*34_*37del rs373668834 0.00257
NM_001377265.1(MAPT):c.*3377G>C rs540687358 0.00235
NM_001377265.1(MAPT):c.*1721C>T rs186042163 0.00190
NM_015443.4(KANSL1):c.*217C>T rs140200874 0.00136
NM_001377265.1(MAPT):c.*3570T>C rs567899904 0.00098
NM_001377265.1(MAPT):c.*1465C>T rs189665411 0.00039
NM_015443.4(KANSL1):c.*626T>C rs533537317 0.00022
NM_001377265.1(MAPT):c.*3810G>A rs140613804 0.00007
NM_001377265.1(MAPT):c.*3133A>G rs191084195 0.00002
NM_001377265.1(MAPT):c.*1670C>T rs535931288 0.00001
NM_001377265.1(MAPT):c.*4154T>C rs377535401 0.00001
NM_001377265.1(MAPT):c.*1039C>T rs568260584
NM_001377265.1(MAPT):c.*1404T>C rs530779128
NM_015443.4(KANSL1):c.*1028T>C rs375427074
NM_015443.4(KANSL1):c.*388G>T rs367998611

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