ClinVar Miner

List of variants studied for mismatch repair cancer syndrome 1 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1145-31_1145-13del rs751973268
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154

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