ClinVar Miner

List of variants in gene CTSC reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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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.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_001814.6(CTSC):c.930C>T (p.Tyr310=) rs148742372 0.00010
NM_001814.6(CTSC):c.777C>T (p.Tyr259=) rs147002502 0.00008
NM_001814.6(CTSC):c.195G>T (p.Val65=) rs776362819 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_001814.6(CTSC):c.768C>T (p.Gly256=) rs776824336 0.00003
NM_001814.6(CTSC):c.641+8A>G rs754068012 0.00002
NM_001814.6(CTSC):c.1176T>C (p.Gly392=) rs773977769 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.804A>G (p.Glu268=) rs1264570336 0.00001
NM_001814.6(CTSC):c.1011C>T (p.Cys337=)
NM_001814.6(CTSC):c.1017T>C (p.Arg339=)
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1053C>T (p.Phe351=)
NM_001814.6(CTSC):c.1062C>T (p.Gly354=)
NM_001814.6(CTSC):c.1104G>T (p.Gly368=)
NM_001814.6(CTSC):c.1119T>A (p.Ala373=)
NM_001814.6(CTSC):c.1125A>G (p.Glu375=)
NM_001814.6(CTSC):c.1140C>T (p.Phe380=)
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)
NM_001814.6(CTSC):c.1158G>T (p.Gly386=)
NM_001814.6(CTSC):c.1161C>T (p.Ile387=)
NM_001814.6(CTSC):c.1179A>G (p.Leu393=)
NM_001814.6(CTSC):c.1188T>G (p.Pro396=)
NM_001814.6(CTSC):c.1194C>T (p.Asn398=)
NM_001814.6(CTSC):c.1197C>T (p.Pro399=)
NM_001814.6(CTSC):c.1227T>G (p.Leu409=)
NM_001814.6(CTSC):c.1239C>T (p.Gly413=)
NM_001814.6(CTSC):c.1242T>C (p.Thr414=)
NM_001814.6(CTSC):c.1254T>A (p.Ser418=)
NM_001814.6(CTSC):c.1257G>A (p.Gly419=)
NM_001814.6(CTSC):c.1257G>T (p.Gly419=)
NM_001814.6(CTSC):c.1272T>A (p.Ile424=)
NM_001814.6(CTSC):c.1272T>C (p.Ile424=)
NM_001814.6(CTSC):c.1284C>T (p.Ser428=)
NM_001814.6(CTSC):c.1320G>A (p.Arg440=)
NM_001814.6(CTSC):c.1323C>T (p.Ile441=)
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
NM_001814.6(CTSC):c.1341G>A (p.Glu447=)
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
NM_001814.6(CTSC):c.1377A>G (p.Pro459=)
NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
NM_001814.6(CTSC):c.173-10_173-7del
NM_001814.6(CTSC):c.173-11T>C
NM_001814.6(CTSC):c.173-15T>A
NM_001814.6(CTSC):c.173-15T>G
NM_001814.6(CTSC):c.173-19T>C
NM_001814.6(CTSC):c.173-6C>T
NM_001814.6(CTSC):c.173-7T>G
NM_001814.6(CTSC):c.173-8T>G
NM_001814.6(CTSC):c.174A>G (p.Gly58=)
NM_001814.6(CTSC):c.180A>G (p.Gln60=)
NM_001814.6(CTSC):c.189A>G (p.Lys63=)
NM_001814.6(CTSC):c.210G>A (p.Lys70=)
NM_001814.6(CTSC):c.213G>T (p.Leu71=)
NM_001814.6(CTSC):c.222A>G (p.Ala74=)
NM_001814.6(CTSC):c.234T>C (p.Leu78=)
NM_001814.6(CTSC):c.237C>T (p.Gly79=)
NM_001814.6(CTSC):c.243T>G (p.Ser81=)
NM_001814.6(CTSC):c.249T>C (p.His83=)
NM_001814.6(CTSC):c.255C>T (p.Thr85=)
NM_001814.6(CTSC):c.273C>T (p.Gly91=)
NM_001814.6(CTSC):c.288G>A (p.Leu96=)
NM_001814.6(CTSC):c.318+13G>T
NM_001814.6(CTSC):c.318+17G>T
NM_001814.6(CTSC):c.318+20G>T
NM_001814.6(CTSC):c.318+9T>C
NM_001814.6(CTSC):c.319-10T>C
NM_001814.6(CTSC):c.319-11T>C
NM_001814.6(CTSC):c.319-17C>G
NM_001814.6(CTSC):c.319-17C>T
NM_001814.6(CTSC):c.319-19_319-13del
NM_001814.6(CTSC):c.319-20T>A
NM_001814.6(CTSC):c.319-4G>T
NM_001814.6(CTSC):c.319-5T>C
NM_001814.6(CTSC):c.351C>T (p.Tyr117=)
NM_001814.6(CTSC):c.357C>T (p.Asn119=)
NM_001814.6(CTSC):c.363A>G (p.Thr121=)
NM_001814.6(CTSC):c.393C>T (p.Gly131=)
NM_001814.6(CTSC):c.408T>C (p.Cys136=)
NM_001814.6(CTSC):c.414C>A (p.Thr138=)
NM_001814.6(CTSC):c.414C>T (p.Thr138=)
NM_001814.6(CTSC):c.432T>C (p.Thr144=)
NM_001814.6(CTSC):c.450T>C (p.Tyr150=)
NM_001814.6(CTSC):c.480G>A (p.Gln160=)
NM_001814.6(CTSC):c.485+11A>G
NM_001814.6(CTSC):c.485+12C>T
NM_001814.6(CTSC):c.486-14A>C
NM_001814.6(CTSC):c.486-17C>T
NM_001814.6(CTSC):c.486-20T>C
NM_001814.6(CTSC):c.486-9T>G
NM_001814.6(CTSC):c.495T>C (p.Asn165=)
NM_001814.6(CTSC):c.507G>A (p.Lys169=)
NM_001814.6(CTSC):c.522T>C (p.Phe174=)
NM_001814.6(CTSC):c.546G>A (p.Gln182=)
NM_001814.6(CTSC):c.552T>G (p.Ser184=)
NM_001814.6(CTSC):c.591C>T (p.Thr197=)
NM_001814.6(CTSC):c.592C>T (p.Leu198=)
NM_001814.6(CTSC):c.609G>A (p.Arg203=)
NM_001814.6(CTSC):c.641+10C>T
NM_001814.6(CTSC):c.641+12C>T
NM_001814.6(CTSC):c.641+20A>C
NM_001814.6(CTSC):c.641+20A>G
NM_001814.6(CTSC):c.642-8C>G
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
NM_001814.6(CTSC):c.666T>C (p.Ala222=)
NM_001814.6(CTSC):c.678A>G (p.Gln226=)
NM_001814.6(CTSC):c.696A>G (p.Pro232=)
NM_001814.6(CTSC):c.717T>C (p.Asn239=)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.750A>C (p.Arg250=)
NM_001814.6(CTSC):c.757+15C>T
NM_001814.6(CTSC):c.757+17A>G
NM_001814.6(CTSC):c.758-16T>C
NM_001814.6(CTSC):c.758-16dup
NM_001814.6(CTSC):c.758-17C>T
NM_001814.6(CTSC):c.758-17_758-16del
NM_001814.6(CTSC):c.758-19G>A
NM_001814.6(CTSC):c.758-20T>C
NM_001814.6(CTSC):c.758-20T>G
NM_001814.6(CTSC):c.758-5G>A
NM_001814.6(CTSC):c.758-5G>T
NM_001814.6(CTSC):c.758-6C>T
NM_001814.6(CTSC):c.762C>G (p.Ser254=)
NM_001814.6(CTSC):c.789T>C (p.Ser263=)
NM_001814.6(CTSC):c.807G>A (p.Ala269=)
NM_001814.6(CTSC):c.873T>C (p.Cys291=)
NM_001814.6(CTSC):c.882T>C (p.Tyr294=)
NM_001814.6(CTSC):c.889+13T>C
NM_001814.6(CTSC):c.889+19A>G
NM_001814.6(CTSC):c.889+9T>A
NM_001814.6(CTSC):c.889+9T>C
NM_001814.6(CTSC):c.890-13T>A
NM_001814.6(CTSC):c.890-18T>C
NM_001814.6(CTSC):c.890-20T>C
NM_001814.6(CTSC):c.890-5T>C
NM_001814.6(CTSC):c.890-6C>T
NM_001814.6(CTSC):c.891C>T (p.Gly297=)
NM_001814.6(CTSC):c.897A>G (p.Glu299=)
NM_001814.6(CTSC):c.900C>T (p.Gly300=)
NM_001814.6(CTSC):c.927G>A (p.Lys309=)
NM_001814.6(CTSC):c.936A>G (p.Gln312=)
NM_001814.6(CTSC):c.942T>C (p.Phe314=)
NM_001814.6(CTSC):c.948G>A (p.Leu316=)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.969C>G (p.Pro323=)
NM_001814.6(CTSC):c.975A>G (p.Thr325=)
NM_001814.6(CTSC):c.978C>T (p.Gly326=)
NM_001814.6(CTSC):c.981T>A (p.Thr327=)
NM_001814.6(CTSC):c.981T>G (p.Thr327=)
NM_001814.6(CTSC):c.996A>G (p.Lys332=)

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