ClinVar Miner

List of variants in gene PMS2 reported as likely benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673

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