ClinVar Miner

List of variants reported as likely benign for Haim-Munk syndrome; Periodontitis, aggressive 1; Papillon-Lefèvre syndrome

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_001814.6(CTSC):c.1392G>A (p.Ter464=) rs143054754 0.00022
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00021
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00017
NM_001814.6(CTSC):c.757+15C>T rs373557576 0.00012
NM_001814.6(CTSC):c.930C>T (p.Tyr310=) rs148742372 0.00010
NM_001814.6(CTSC):c.1284C>T (p.Ser428=) rs181712112 0.00008
NM_001814.6(CTSC):c.777C>T (p.Tyr259=) rs147002502 0.00007
NM_001814.6(CTSC):c.173-19T>C rs1289596965 0.00006
NM_001814.6(CTSC):c.1257G>A (p.Gly419=) rs773993931 0.00005
NM_001814.6(CTSC):c.22C>T (p.Leu8=) rs764277281 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_001814.6(CTSC):c.648A>G (p.Lys216=) rs551643961 0.00004
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00003
NM_001814.6(CTSC):c.189A>G (p.Lys63=) rs758958232 0.00003
NM_001814.6(CTSC):c.273C>T (p.Gly91=) rs562117783 0.00003
NM_001814.6(CTSC):c.40C>T (p.Leu14=) rs943332293 0.00003
NM_001814.6(CTSC):c.485+11A>G rs567043198 0.00003
NM_001814.6(CTSC):c.758-5G>A rs569733771 0.00003
NM_001814.6(CTSC):c.768C>T (p.Gly256=) rs776824336 0.00003
NM_001814.6(CTSC):c.890-20T>C rs561122855 0.00003
NM_001814.6(CTSC):c.90C>T (p.Cys30=) rs202160994 0.00003
NM_001814.6(CTSC):c.1188T>G (p.Pro396=) rs1944273102 0.00002
NM_001814.6(CTSC):c.1338T>C (p.Asp446=) rs776743399 0.00002
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.210G>A (p.Lys70=) rs771971698 0.00002
NM_001814.6(CTSC):c.552T>G (p.Ser184=) rs1189865560 0.00002
NM_001814.6(CTSC):c.666T>C (p.Ala222=) rs147642061 0.00002
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253 0.00002
NM_001814.6(CTSC):c.758-17C>T rs1182990433 0.00002
NM_001814.6(CTSC):c.873T>C (p.Cys291=) rs1409469273 0.00002
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=) rs1411824381 0.00001
NM_001814.6(CTSC):c.1053C>T (p.Phe351=) rs1278148960 0.00001
NM_001814.6(CTSC):c.1119T>A (p.Ala373=) rs764613728 0.00001
NM_001814.6(CTSC):c.1125A>G (p.Glu375=) rs370050417 0.00001
NM_001814.6(CTSC):c.1140C>T (p.Phe380=) rs1555025799 0.00001
NM_001814.6(CTSC):c.1158G>T (p.Gly386=) rs11545744 0.00001
NM_001814.6(CTSC):c.1161C>T (p.Ile387=) rs1482420752 0.00001
NM_001814.6(CTSC):c.1176T>C (p.Gly392=) rs773977769 0.00001
NM_001814.6(CTSC):c.1272T>C (p.Ile424=) rs376286500 0.00001
NM_001814.6(CTSC):c.1323C>T (p.Ile441=) rs372847740 0.00001
NM_001814.6(CTSC):c.1344T>C (p.Cys448=) rs1341321803 0.00001
NM_001814.6(CTSC):c.172+15C>T rs1318347416 0.00001
NM_001814.6(CTSC):c.173-11T>C rs754981212 0.00001
NM_001814.6(CTSC):c.195G>T (p.Val65=) rs776362819 0.00001
NM_001814.6(CTSC):c.213G>T (p.Leu71=) rs1938453892 0.00001
NM_001814.6(CTSC):c.234T>C (p.Leu78=) rs778989416 0.00001
NM_001814.6(CTSC):c.27C>T (p.Leu9=) rs753028435 0.00001
NM_001814.6(CTSC):c.318+17G>T rs1424428017 0.00001
NM_001814.6(CTSC):c.318+20G>T rs758784937 0.00001
NM_001814.6(CTSC):c.319-10T>C rs1392083951 0.00001
NM_001814.6(CTSC):c.351C>T (p.Tyr117=) rs1343944955 0.00001
NM_001814.6(CTSC):c.363A>G (p.Thr121=) rs139142076 0.00001
NM_001814.6(CTSC):c.414C>T (p.Thr138=) rs375899934 0.00001
NM_001814.6(CTSC):c.450T>C (p.Tyr150=) rs780976463 0.00001
NM_001814.6(CTSC):c.641+10C>T rs780436214 0.00001
NM_001814.6(CTSC):c.641+20A>C rs750983855 0.00001
NM_001814.6(CTSC):c.641+8A>G rs754068012 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.758-20T>C rs761655706 0.00001
NM_001814.6(CTSC):c.758-20T>G rs761655706 0.00001
NM_001814.6(CTSC):c.758-6C>T rs762971162 0.00001
NM_001814.6(CTSC):c.789T>C (p.Ser263=) rs1944297448 0.00001
NM_001814.6(CTSC):c.804A>G (p.Glu268=) rs1264570336 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.890-5T>C rs747048033 0.00001
NM_001814.6(CTSC):c.891C>T (p.Gly297=) rs1383600508 0.00001
NM_001814.6(CTSC):c.900C>T (p.Gly300=) rs745390377 0.00001
NM_001814.6(CTSC):c.936A>G (p.Gln312=) rs778848687 0.00001
NM_001814.6(CTSC):c.975A>G (p.Thr325=) rs750668143 0.00001
NM_001814.6(CTSC):c.981T>G (p.Thr327=) rs768519393 0.00001
NM_001814.6(CTSC):c.1011C>T (p.Cys337=) rs2496529775
NM_001814.6(CTSC):c.1017T>C (p.Arg339=) rs2496529715
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1062C>T (p.Gly354=) rs778723963
NM_001814.6(CTSC):c.1086T>G (p.Leu362=)
NM_001814.6(CTSC):c.1104G>T (p.Gly368=) rs1479718336
NM_001814.6(CTSC):c.111C>T (p.Gly37=) rs2496631137
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=) rs2134763345
NM_001814.6(CTSC):c.1179A>G (p.Leu393=) rs1944273205
NM_001814.6(CTSC):c.1194C>T (p.Asn398=) rs201519830
NM_001814.6(CTSC):c.1197C>T (p.Pro399=) rs2496528894
NM_001814.6(CTSC):c.1227T>G (p.Leu409=) rs1029293191
NM_001814.6(CTSC):c.1233C>T (p.Gly411=)
NM_001814.6(CTSC):c.1239C>T (p.Gly413=) rs2496528705
NM_001814.6(CTSC):c.1242T>C (p.Thr414=) rs1224469453
NM_001814.6(CTSC):c.1254T>A (p.Ser418=) rs896881152
NM_001814.6(CTSC):c.1257G>T (p.Gly419=) rs773993931
NM_001814.6(CTSC):c.1272T>A (p.Ile424=) rs376286500
NM_001814.6(CTSC):c.1320G>A (p.Arg440=) rs756787034
NM_001814.6(CTSC):c.1335T>A (p.Thr445=)
NM_001814.6(CTSC):c.1341G>A (p.Glu447=) rs1214651337
NM_001814.6(CTSC):c.1377A>G (p.Pro459=) rs3891238
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.173-10_173-7del rs11326739
NM_001814.6(CTSC):c.173-15T>A rs779183351
NM_001814.6(CTSC):c.173-15T>G rs779183351
NM_001814.6(CTSC):c.173-6C>T rs201763299
NM_001814.6(CTSC):c.173-7T>G rs1938457539
NM_001814.6(CTSC):c.173-8T>G rs1404927654
NM_001814.6(CTSC):c.174A>G (p.Gly58=) rs2134827905
NM_001814.6(CTSC):c.180A>G (p.Gln60=) rs762254893
NM_001814.6(CTSC):c.18C>T (p.Ser6=) rs780992959
NM_001814.6(CTSC):c.195G>A (p.Val65=)
NM_001814.6(CTSC):c.21G>A (p.Leu7=) rs370256893
NM_001814.6(CTSC):c.222A>G (p.Ala74=) rs2496620384
NM_001814.6(CTSC):c.237C>T (p.Gly79=) rs768836818
NM_001814.6(CTSC):c.243T>G (p.Ser81=) rs2496620261
NM_001814.6(CTSC):c.249T>C (p.His83=) rs2496620242
NM_001814.6(CTSC):c.255C>T (p.Thr85=) rs757616970
NM_001814.6(CTSC):c.288G>A (p.Leu96=) rs1230145449
NM_001814.6(CTSC):c.318+13G>T rs2496619613
NM_001814.6(CTSC):c.318+9T>C rs2496619639
NM_001814.6(CTSC):c.319-11T>C rs1565256412
NM_001814.6(CTSC):c.319-17C>A
NM_001814.6(CTSC):c.319-17C>G rs771451810
NM_001814.6(CTSC):c.319-17C>T rs771451810
NM_001814.6(CTSC):c.319-19_319-13del rs1450373306
NM_001814.6(CTSC):c.319-20T>A rs2496562431
NM_001814.6(CTSC):c.319-4G>T rs2496562363
NM_001814.6(CTSC):c.319-5T>C rs2496562368
NM_001814.6(CTSC):c.357C>T (p.Asn119=) rs1591230120
NM_001814.6(CTSC):c.369T>C (p.Thr123=)
NM_001814.6(CTSC):c.393C>T (p.Gly131=) rs955710566
NM_001814.6(CTSC):c.408T>C (p.Cys136=) rs1031765715
NM_001814.6(CTSC):c.414C>A (p.Thr138=) rs375899934
NM_001814.6(CTSC):c.42G>C (p.Leu14=) rs1173823140
NM_001814.6(CTSC):c.432T>C (p.Thr144=) rs2496561939
NM_001814.6(CTSC):c.480G>A (p.Gln160=) rs1937782975
NM_001814.6(CTSC):c.485+12C>T rs2496561680
NM_001814.6(CTSC):c.486-14A>C rs2496556397
NM_001814.6(CTSC):c.486-17C>T rs2496556418
NM_001814.6(CTSC):c.486-20T>C rs1565255071
NM_001814.6(CTSC):c.486-9T>G rs757022817
NM_001814.6(CTSC):c.48C>G (p.Leu16=)
NM_001814.6(CTSC):c.48C>T (p.Leu16=) rs777014407
NM_001814.6(CTSC):c.495T>C (p.Asn165=) rs766931085
NM_001814.6(CTSC):c.501C>T (p.Leu167=)
NM_001814.6(CTSC):c.507G>A (p.Lys169=) rs2496556303
NM_001814.6(CTSC):c.51C>T (p.Ser17=) rs567137674
NM_001814.6(CTSC):c.522T>C (p.Phe174=) rs762432629
NM_001814.6(CTSC):c.540C>T (p.Ala180=)
NM_001814.6(CTSC):c.546G>A (p.Gln182=) rs2496556159
NM_001814.6(CTSC):c.591C>T (p.Thr197=) rs2496556019
NM_001814.6(CTSC):c.592C>T (p.Leu198=) rs2496556012
NM_001814.6(CTSC):c.609G>A (p.Arg203=) rs1387914452
NM_001814.6(CTSC):c.60C>T (p.Gly20=) rs2496631776
NM_001814.6(CTSC):c.639A>G (p.Pro213=)
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.641+12C>T rs1937695333
NM_001814.6(CTSC):c.641+20A>G rs750983855
NM_001814.6(CTSC):c.642-16T>C
NM_001814.6(CTSC):c.642-19A>G
NM_001814.6(CTSC):c.642-8C>G rs1470670882
NM_001814.6(CTSC):c.678A>G (p.Gln226=) rs1214951578
NM_001814.6(CTSC):c.696A>G (p.Pro232=) rs2134771004
NM_001814.6(CTSC):c.717T>C (p.Asn239=) rs2496540484
NM_001814.6(CTSC):c.750A>C (p.Arg250=) rs2496540347
NM_001814.6(CTSC):c.757+17A>G rs749327530
NM_001814.6(CTSC):c.758-16T>C rs141107832
NM_001814.6(CTSC):c.758-16dup rs765175054
NM_001814.6(CTSC):c.758-17_758-16del rs2496533246
NM_001814.6(CTSC):c.758-19G>A rs1944298113
NM_001814.6(CTSC):c.758-5G>T rs569733771
NM_001814.6(CTSC):c.762C>G (p.Ser254=) rs769836358
NM_001814.6(CTSC):c.807G>A (p.Ala269=) rs950515818
NM_001814.6(CTSC):c.87C>T (p.Asn29=) rs2496631469
NM_001814.6(CTSC):c.882T>C (p.Tyr294=) rs2496532690
NM_001814.6(CTSC):c.889+13T>C rs2496532647
NM_001814.6(CTSC):c.889+18G>C
NM_001814.6(CTSC):c.889+19A>G rs1230823465
NM_001814.6(CTSC):c.889+9T>A rs1944296015
NM_001814.6(CTSC):c.889+9T>C rs1944296015
NM_001814.6(CTSC):c.890-13T>A rs2496530175
NM_001814.6(CTSC):c.890-18T>C rs954306221
NM_001814.6(CTSC):c.890-6C>T rs2496530157
NM_001814.6(CTSC):c.897A>G (p.Glu299=) rs2496530117
NM_001814.6(CTSC):c.927G>A (p.Lys309=) rs1443508824
NM_001814.6(CTSC):c.942T>C (p.Phe314=) rs2496529973
NM_001814.6(CTSC):c.948G>A (p.Leu316=) rs145373075
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.969C>G (p.Pro323=) rs2496529916
NM_001814.6(CTSC):c.969C>T (p.Pro323=)
NM_001814.6(CTSC):c.978C>T (p.Gly326=) rs1360293389
NM_001814.6(CTSC):c.981T>A (p.Thr327=) rs768519393
NM_001814.6(CTSC):c.996A>G (p.Lys332=) rs948370541

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