List of variants in gene combination CTSC, LOC130006572 reported as likely benign for Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001814.6(CTSC):c.22C>T (p.Leu8=)	rs764277281	0.00004
NM_001814.6(CTSC):c.12G>A (p.Gly4=)	rs755959403	0.00003
NM_001814.6(CTSC):c.40C>T (p.Leu14=)	rs943332293	0.00003
NM_001814.6(CTSC):c.90C>T (p.Cys30=)	rs202160994	0.00003
NM_001814.6(CTSC):c.168T>G (p.Val56=)	rs1236703860	0.00002
NM_001814.6(CTSC):c.172+19A>C	rs550626248	0.00002
NM_001814.6(CTSC):c.172+15C>T	rs1318347416	0.00001
NM_001814.6(CTSC):c.27C>T (p.Leu9=)	rs753028435	0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=)	rs1370319468	0.00001
NM_001814.6(CTSC):c.84C>G (p.Ala28=)	rs745677646	0.00001
NM_001814.6(CTSC):c.111C>T (p.Gly37=)	rs2496631137
NM_001814.6(CTSC):c.138C>T (p.Ser46=)	rs2496630906
NM_001814.6(CTSC):c.144C>G (p.Ser48=)	rs1938535967
NM_001814.6(CTSC):c.147G>A (p.Gln49=)	rs868356626
NM_001814.6(CTSC):c.15C>T (p.Pro5=)	rs2496632222
NM_001814.6(CTSC):c.162C>T (p.Cys54=)	rs2496630693
NM_001814.6(CTSC):c.165G>A (p.Ser55=)	rs773826121
NM_001814.6(CTSC):c.172+10C>T	rs1328604864
NM_001814.6(CTSC):c.172+11G>C
NM_001814.6(CTSC):c.172+13C>T	rs1938533835
NM_001814.6(CTSC):c.172+8G>C
NM_001814.6(CTSC):c.172+8G>T	rs1206973229
NM_001814.6(CTSC):c.18C>T (p.Ser6=)	rs780992959
NM_001814.6(CTSC):c.21G>A (p.Leu7=)	rs370256893
NM_001814.6(CTSC):c.42G>C (p.Leu14=)	rs1173823140
NM_001814.6(CTSC):c.48C>G (p.Leu16=)
NM_001814.6(CTSC):c.48C>T (p.Leu16=)	rs777014407
NM_001814.6(CTSC):c.51C>T (p.Ser17=)	rs567137674
NM_001814.6(CTSC):c.60C>T (p.Gly20=)	rs2496631776
NM_001814.6(CTSC):c.63C>G (p.Ala21=)	rs773560028
NM_001814.6(CTSC):c.63C>T (p.Ala21=)	rs773560028
NM_001814.6(CTSC):c.87C>T (p.Asn29=)	rs2496631469

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