ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_000535.6(PMS2):c.164-5T>C rs1554305071
NM_000535.6(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.6(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.6(PMS2):c.830C>A (p.Thr277Lys) rs1805322

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