ClinVar Miner

List of variants in gene PMS2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 16
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NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1332G>A (p.Arg444=) rs1554297874
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) rs375968016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852

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