ClinVar Miner

List of variants studied for Lynch syndrome 2 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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