ClinVar Miner

List of variants in gene PMS2 reported as benign by Color

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Gene type:
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Total variants: 31
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HGVS dbSNP
NM_000535.5(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.6(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.6(PMS2):c.164-108G>C rs12538294
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.537+17C>T rs548285941
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.6(PMS2):c.705+17A>G rs62456182
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000535.6(PMS2):c.706-4dup rs60794673
NM_000535.6(PMS2):c.706-6_706-4delTTT rs60794673
NM_000535.6(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.6(PMS2):c.988+11T>C rs139969671
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585

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