ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 4 by Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe) rs777286241 0.00020
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln) rs1785414812
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173

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