ClinVar Miner

List of variants studied for Lynch syndrome by Knight Diagnostic Laboratories,Oregon Health and Sciences University

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000179.2(MSH6):c.1106C>T (p.Thr369Ile) rs375974046
NM_000179.2(MSH6):c.2782A>G (p.Thr928Ala) rs1057519255
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.942+3delA rs11309117
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.706-4del rs60794673
NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) rs543584983
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787

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