ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4

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Total variants: 27
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HGVS dbSNP
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125

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