ClinVar Miner

List of variants studied for Lynch syndrome 5 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala) rs377356882 0.00004
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val) rs876661084 0.00003
NM_000179.3(MSH6):c.133G>C (p.Gly45Arg) rs978968846 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.596C>T (p.Pro199Leu) rs587782315 0.00001
NM_000179.3(MSH6):c.1776A>G (p.Val592=) rs56132616
NM_000179.3(MSH6):c.1989T>G (p.Thr663=) rs1057520324
NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala) rs749711246
NM_000179.3(MSH6):c.261-14C>A rs369366445
NM_000179.3(MSH6):c.3172+7C>T rs587780676
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3646+2T>G rs1553332776
NM_000179.3(MSH6):c.3877G>C (p.Ala1293Pro) rs1461336062
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.523G>A (p.Ala175Thr) rs2104232775
NM_000179.3(MSH6):c.635C>G (p.Thr212Arg) rs876659637
NM_000179.3(MSH6):c.753A>G (p.Ile251Met) rs587779321

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