ClinVar Miner

List of variants studied for Lynch syndrome 1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NC_000002.12:g.(47403403_47408400)_(47429942_47445547)del
NC_000002.12:g.(47429942_47445547)_(47483224_47482778)del
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.2551C>G (p.Leu851Val) rs267608015
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter) rs763872353
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter) rs1573437064
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.3(MSH2):c.792+1G>C rs267607934

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