ClinVar Miner

List of variants in gene PMS2 reported as benign by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485 0.00001
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951

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