ClinVar Miner

List of variants studied for Lynch syndrome 5 by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139

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