ClinVar Miner

List of variants in gene PMS2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 13
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NM_000535.5(PMS2):c.2521delT (p.Trp841Glyfs) rs886039646
NM_000535.5(PMS2):c.2533delC (p.His845Metfs) rs1064796500
NM_000535.5(PMS2):c.851delC (p.Ser284Terfs) rs876658964
NM_000535.6(PMS2):c.1634_1635delCT (p.Ser545Phefs) rs753256070
NM_000535.6(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.6(PMS2):c.1970delA (p.Asn657Ilefs) rs1064794566
NM_000535.6(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.6(PMS2):c.2500_2501delATinsG (p.Met834Glyfs) rs587781626
NM_000535.6(PMS2):c.733_741delCTGCCCCCTinsGCTGTGCTGTGAAG (p.Leu245Alafs) rs1554301495
NM_000535.7(PMS2):c.1076dup (p.Leu359Phefs) rs267608156
NM_000535.7(PMS2):c.733_741delCTGCCCCCTinsGCTGTGTTGTGAAG (p.Leu245Alafs)

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