ClinVar Miner

List of variants in gene MSH2 reported as likely benign for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.1617T>C (p.Phe539=) rs730881759 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000251.3(MSH2):c.2459-9T>C rs776644342 0.00002
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721 0.00002
NM_000251.3(MSH2):c.1221C>G (p.Leu407=) rs63750813 0.00001
NM_000251.3(MSH2):c.1485A>G (p.Thr495=) rs767039383 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn) rs879254183 0.00001
NM_000251.3(MSH2):c.2248T>C (p.Leu750=) rs527725593 0.00001
NM_000251.3(MSH2):c.996G>A (p.Lys332=) rs863224343 0.00001
NM_000251.3(MSH2):c.1005C>T (p.Thr335=) rs749117915
NM_000251.3(MSH2):c.1401A>G (p.Glu467=) rs1558508085
NM_000251.3(MSH2):c.1485A>T (p.Thr495=)
NM_000251.3(MSH2):c.1746C>A (p.Val582=) rs786201486
NM_000251.3(MSH2):c.2052G>T (p.Val684=)
NM_000251.3(MSH2):c.212-5_212-4del rs746333570
NM_000251.3(MSH2):c.2210+7G>A rs374675118
NM_000251.3(MSH2):c.2230T>C (p.Leu744=) rs1188205467
NM_000251.3(MSH2):c.2670G>A (p.Lys890=) rs1196909514
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.2757T>C (p.Asn919=) rs1354355913
NM_000251.3(MSH2):c.45C>T (p.Ala15=) rs876659170
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.690T>C (p.Ala230=) rs1553351595
NM_000251.3(MSH2):c.930T>C (p.Leu310=)

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