ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for Carcinoma of colon

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr) rs1583299036
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.933C>G (p.His311Gln) rs1057521069
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189

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