ClinVar Miner

List of variants in gene PMS2 reported as not provided

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Total variants: 36
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HGVS dbSNP
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr) rs587778619
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004

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