ClinVar Miner

List of variants studied for Lynch syndrome 5 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00012
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000179.3(MSH6):c.1505T>C (p.Ile502Thr) rs749012012 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000179.3(MSH6):c.1146C>G (p.His382Gln) rs1572721856 0.00001
NM_000179.3(MSH6):c.2527A>G (p.Ile843Val) rs1060502922 0.00001
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser) rs758699749
NM_000179.3(MSH6):c.1573A>G (p.Ser525Gly) rs1572723488
NM_000179.3(MSH6):c.1574G>C (p.Ser525Thr) rs765387680
NM_000179.3(MSH6):c.2275C>G (p.Leu759Val) rs1669442548
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3886A>C (p.Lys1296Gln) rs575714670
NM_000179.3(MSH6):c.517C>G (p.Leu173Val) rs1553411421
NM_000179.3(MSH6):c.85C>T (p.Arg29Cys) rs756589186
NM_000179.3(MSH6):c.909G>A (p.Met303Ile) rs786201688

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