ClinVar Miner

List of variants studied for Lynch syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.1150G>A (p.Val384Ile) rs757350157 0.00001
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000251.3(MSH2):c.1510+2T>C rs1060502023

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