ClinVar Miner

List of variants studied for Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831

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