ClinVar Miner

List of variants studied for colorectal cancer by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs) rs63750075
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter) rs1322095633
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000249.4(MLH1):c.1003del (p.Leu335fs) rs2082990862
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del) rs1575641243
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs) rs1667229261
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.942+1del rs1194793421
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476

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