ClinVar Miner

List of variants reported as likely benign for Papillon-Lefevre disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001814.5(CTSC):c.-91T>G rs144306006 0.00400
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_001814.6(CTSC):c.-45C>G rs181685520 0.00163
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017

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