ClinVar Miner

List of variants in gene MSH6 reported as pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1409C>G (p.Ser470Ter) rs2104341995
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094

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