ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 23
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HGVS dbSNP
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.2(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.2(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.2(MSH6):c.3556+1G>T
NM_000179.2(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.2(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.2(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.2(MSH6):c.900dup (p.Lys301fs) rs863225421

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