ClinVar Miner

List of variants in gene PMS2 studied for Lynch syndrome I

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Total variants: 20
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HGVS dbSNP
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2093T>G (p.Val698Gly) rs1085308060
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608

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