ClinVar Miner

List of variants studied for Lynch syndrome 5 by Mendelics

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000179.3(MSH6):c.3802-22G>A rs373409282 0.00097
NM_000179.3(MSH6):c.3173-35C>T rs186475107 0.00070
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr) rs775971872 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000179.3(MSH6):c.627+9C>T rs373155872 0.00003
NM_000179.3(MSH6):c.204G>A (p.Lys68=) rs864622565 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.4002-28del rs1572749250 0.00002
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1623C>T (p.Ser541=) rs777678406 0.00001
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797 0.00001
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser) rs998186339 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NC_000002.12:g.47807212C>A rs1572751620
NM_000179.3(MSH6):c.-46T>G rs748339592
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe) rs63750897
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.183G>C (p.Ala61=) rs1060504757
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter) rs1114167791
NM_000179.3(MSH6):c.2298T>G (p.His766Gln) rs768535330
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser) rs779664343
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter) rs1482228994
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3153A>G (p.Val1051=) rs1057521587
NM_000179.3(MSH6):c.3172+230_3172+231dup rs10666222
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3557-16T>A rs1259754363
NM_000179.3(MSH6):c.3557-2del rs587779271
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.378A>G (p.Ser126=) rs1572708845
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4001+50_4001+51dup rs199687113
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT rs1553333916
NM_000179.3(MSH6):c.4002-36C>A rs983280767
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.3(MSH6):c.423C>G (p.Gly141=) rs777587467
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.520A>C (p.Arg174=) rs1405000889
NM_000179.3(MSH6):c.627+26_627+37del rs1558656848
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly) rs1558659442
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser) rs1572806551

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