ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 5
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HGVS dbSNP
NM_000535.6(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.877A>G (p.Asn293Asp) rs530993704

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