ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by GeneKor MSA

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Total variants: 19
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HGVS dbSNP
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr) rs1554295821
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile) rs876660374
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr) rs1562690040
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu) rs777845808
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.803+4A>G rs756312205
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)

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