ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Invitae

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly) rs730882127 0.00003
NM_002354.3(EPCAM):c.658-6A>G rs768723264 0.00003
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr) rs587780765 0.00001
NM_002354.3(EPCAM):c.603A>G (p.Gln201=) rs730882126 0.00001
NC_000002.11:g.(?_47596287)_(47596720_?)dup
NC_000002.11:g.(?_47596287)_(47604216_?)dup
NC_000002.11:g.(?_47596287)_(47614167_?)dup
NC_000002.11:g.(?_47698104)_(47710367_?)dup
NC_000002.11:g.(?_48010221)_(48010632_?)dup
NC_000002.11:g.(?_48010221)_(48032166_?)dup
NC_000002.12:g.(?_47482779)_(47482949_?)del
NM_000179.2(MSH6):c.-152-?_4001+?dup
NM_000179.3(MSH6):c.2312A>T (p.Lys771Met) rs864622586
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer) rs63751408
NM_000179.3(MSH6):c.2670C>A (p.Val890=) rs863224625
NM_000179.3(MSH6):c.3969_4001+52dup rs1553333718
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.3(MSH6):c.4002-9_4002-7del rs864622105
NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?) rs863224830
NM_000249.3(MLH1):c.1732-?_*193dup733
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTAA rs535965616
NM_000249.4(MLH1):c.1738G>C (p.Ala580Pro) rs864622530
NM_000249.4(MLH1):c.90T>G (p.Asn30Lys) rs863224637
NM_000249.4(MLH1):c.920T>C (p.Val307Ala) rs863224638
NM_000251.2(MSH2):c.-125_1076+?dup1201
NM_000251.3(MSH2):c.115_123del (p.Arg39_Asp41del) rs863224831
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
NM_000535.7(PMS2):c.1144+5del rs878854032
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_002354.2(EPCAM):c.(?_-1)_858+?dup
NM_002354.2(EPCAM):c.859-?_*415+?dup
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly) rs587780557
NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1]) rs878854490
NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del) rs864622092
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del) rs863224840
NM_002354.3(EPCAM):c.76+5G>A rs863224712
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr) rs587780771

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