ClinVar Miner

List of variants studied for Mismatch repair cancer syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08921
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000535.7(PMS2):c.164-4C>G rs876658444
NM_000535.7(PMS2):c.2445+6T>C rs1170182390
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.964G>T (p.Val322Phe) rs587782208

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