ClinVar Miner

List of variants studied for DNA repair disease by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001

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