ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1410-2A>G rs746536721
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter) rs1573437173
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001354630.1(MLH1):c.1732-866del rs1559588540

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