ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by Mendelics

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Total variants: 33
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HGVS dbSNP
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.5(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.5(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.5(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.5(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.5(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.5(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.1171G>C (p.Asp391His)
NM_000535.6(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.6(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.6(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.6(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.6(PMS2):c.1593_1610dup (p.Glu537_Lys538insHisValAspSerGlnGlu) rs587780043
NM_000535.6(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2167C>G (p.Leu723Val)
NM_000535.6(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.6(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.6(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.6(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.6(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.6(PMS2):c.825A>T (p.Gln275His)
NM_000535.6(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.6(PMS2):c.989-3T>C rs1156325177

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