ClinVar Miner

List of variants in gene CTSD reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.352+42T>C rs149907533 0.01641
NM_001909.5(CTSD):c.704+183G>A rs115786275 0.01477
NM_001909.5(CTSD):c.352+48A>G rs139068420 0.01106
NM_001909.5(CTSD):c.472-27G>T rs146434428 0.00795
NM_001909.5(CTSD):c.229-25C>T rs112184520 0.00603
NM_001909.5(CTSD):c.827+73C>T rs201119619 0.00542
NM_001909.5(CTSD):c.*288G>A rs112529968 0.00541
NM_001909.5(CTSD):c.827+22C>T rs113641298 0.00253
NM_001909.5(CTSD):c.68+10C>T rs760082760 0.00020
NM_001909.5(CTSD):c.*14C>T rs556410676 0.00013
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148 0.00013
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301 0.00008
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588 0.00006
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411 0.00006
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382 0.00005
NM_001909.5(CTSD):c.1071+9G>A rs747408239 0.00004
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996 0.00004
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660 0.00004
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696 0.00004
NM_001909.5(CTSD):c.828-4G>A rs371034011 0.00004
NM_001909.5(CTSD):c.972+7G>A rs371747998 0.00004
NM_001909.5(CTSD):c.704+18C>T rs371260793 0.00003
NM_001909.5(CTSD):c.828-5C>T rs762444592 0.00003
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496 0.00003
NM_001909.5(CTSD):c.*10C>T rs768283127 0.00002
NM_001909.5(CTSD):c.*11G>A rs377057633 0.00001
NM_001909.5(CTSD):c.*17G>A rs201616935 0.00001
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.1158C>T (p.Gly386=) rs762076054 0.00001
NM_001909.5(CTSD):c.366G>A (p.Lys122=) rs369424685 0.00001
NM_001909.5(CTSD):c.472-15T>C rs758874267 0.00001
NM_001909.5(CTSD):c.489G>A (p.Ala163=) rs767476700 0.00001
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448 0.00001
NM_001909.5(CTSD):c.552G>A (p.Lys184=) rs765849046 0.00001
NM_001909.5(CTSD):c.558A>G (p.Pro186=) rs755670512 0.00001
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332 0.00001
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495 0.00001
NM_001909.5(CTSD):c.705-4C>T rs1057521968 0.00001
NM_001909.5(CTSD):c.827+9T>A rs757270638 0.00001
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00001
NM_001909.5(CTSD):c.973-14G>A rs1354741089 0.00001
NM_001909.5(CTSD):c.*15G>A rs745784791
NM_001909.5(CTSD):c.*207TC[2] rs199970387
NM_001909.5(CTSD):c.*4C>G rs1057521403
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1071+12A>T rs113936232
NM_001909.5(CTSD):c.1072-41G>C rs138305981
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.497C>T (p.Ala166Val) rs796052396
NM_001909.5(CTSD):c.68+10C>G rs760082760
NM_001909.5(CTSD):c.705-21A>T rs2292964
NM_001909.5(CTSD):c.780C>T (p.Ser260=) rs1404000220
NM_001909.5(CTSD):c.828-247_828-221del rs1219998189
NM_001909.5(CTSD):c.867C>T (p.Gly289=) rs1200494428

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