ClinVar Miner

List of variants reported as likely pathogenic for mismatch repair cancer syndrome 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110

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