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: 10
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HGVS dbSNP
NM_000179.2(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.2(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000249.3(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.3(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.3(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250

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