ClinVar Miner

List of variants studied for Lynch syndrome 1 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02158
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00449
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00152
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00056
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278

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