ClinVar Miner

List of variants studied for colorectal cancer by Department of Human Genetics, Hannover Medical School

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 2p21(chr2:47416275-47416449)x1
NM_000179.3(MSH6):c.1655A>C (p.His552Pro)
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.562A>T (p.Ile188Phe) rs1669063357
NM_000249.4(MLH1):c.108dup (p.Glu37Ter)
NM_000249.4(MLH1):c.1789T>A (p.Trp597Arg)
NM_000249.4(MLH1):c.1871dup (p.Asp624fs)
NM_000249.4(MLH1):c.2144_2150del (p.Thr715fs)
NM_000249.4(MLH1):c.790C>G (p.His264Asp) rs63751597
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr) rs749671520
NM_000251.3(MSH2):c.1428del (p.Asn477fs) rs2104086603
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.425C>A (p.Ser142Ter) rs63750910
NM_000535.7(PMS2):c.925G>T (p.Val309Phe) rs763718441

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