ClinVar Miner

List of variants reported as benign for Lynch syndrome 1 by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro) rs587779957

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