ClinVar Miner

List of variants in gene PMS2 reported as likely benign by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668

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