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: 12
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HGVS dbSNP
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000251.2(MSH2):c.1708del (p.Tyr570fs) rs1131692279
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_001281492.1(MSH6):c.1244_1247del (p.Lys415fs) rs63749874
NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) rs267608128

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