ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome 4 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)

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