ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Illumina Laboratory Services, Illumina

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_002354.3(EPCAM):c.-79C>T rs886056131 0.00004
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000249.4(MLH1):c.-22C>T rs771060933 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_002354.3(EPCAM):c.-192G>T rs376344699 0.00001
NM_000179.3(MSH6):c.-51G>T rs375109921
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.3(MSH6):c.531A>T (p.Gln177His) rs886056142
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.4(MLH1):c.546-5del rs1553643965
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000535.6(PMS2):c.-48C>A rs886062402
NM_001040108.2(MLH3):c.*1701del rs886050770
NM_001040108.2(MLH3):c.*3048del rs886050767
NM_001040108.2(MLH3):c.*797dup rs886050773
NM_001040108.2(MLH3):c.*957_*958delinsAT rs386778871
NM_001040108.2(MLH3):c.-63-10dup rs886050781
NM_002354.3(EPCAM):c.*147dup rs886056132

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