ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by Counsyl

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.2(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.2(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.2(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.2(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.3(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.3(MLH1):c.1731+1G>T rs267607853
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.454-1G>C rs193922370
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.884+3A>G rs267607803
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.2(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_001167617.2(MLH1):c.-433del rs587779045
NM_001167617.2(MLH1):c.-7del rs1064795441
NM_001167618.2(MLH1):c.-399del rs1553641273
NM_001281492.1(MSH6):c.215_237+21del rs1553408380
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281493.1(MSH6):c.-166dup rs267608041
NM_001281493.1(MSH6):c.-612_-605dup rs1553408245
NM_001281493.1(MSH6):c.-682del rs1553408127
NM_001354629.1(MLH1):c.208-3445_208-3433del rs1057517543

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