ClinVar Miner

List of variants studied for Lynch syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000179.2(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000251.2(MSH2):c.1708del (p.Tyr570fs) rs1131692279
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150

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