ClinVar Miner

List of variants in gene CTNS reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_001031681.2(CTNS):c.561+4C>T rs111256750
NM_001031681.2(CTNS):c.684_686dup (p.Gly230_Gln231insGly) rs1555563962
NM_004937.2(CTNS):c.*1024_*1030delCAAAGCTinsTGAAGCTGTC rs886052872
NM_004937.2(CTNS):c.*1033_*1034insGGC rs397831765
NM_004937.2(CTNS):c.*1046_*1047dupGG rs772764926
NM_004937.2(CTNS):c.*1047dupG rs772764926
NM_004937.2(CTNS):c.*1053T>G rs1048677
NM_004937.2(CTNS):c.*1125C>T rs886052874
NM_004937.2(CTNS):c.*1176C>G rs553878990
NM_004937.2(CTNS):c.*1176_*1179delCTGT rs886052875
NM_004937.2(CTNS):c.*1206T>C rs115239409
NM_004937.2(CTNS):c.*1249C>T rs886052876
NM_004937.2(CTNS):c.*129C>T rs746209035
NM_004937.2(CTNS):c.*1336G>A rs541263497
NM_004937.2(CTNS):c.*1366C>G rs558637146
NM_004937.2(CTNS):c.*1383C>T rs886052877
NM_004937.2(CTNS):c.*1397C>T rs886052878
NM_004937.2(CTNS):c.*1472G>A rs563539494
NM_004937.2(CTNS):c.*1501T>C rs886052879
NM_004937.2(CTNS):c.*1669C>T rs117079843
NM_004937.2(CTNS):c.*1680G>A rs572393960
NM_004937.2(CTNS):c.*16T>C rs201198798
NM_004937.2(CTNS):c.*1874G>A rs886052880
NM_004937.2(CTNS):c.*1899G>A rs563849197
NM_004937.2(CTNS):c.*1956_*1957delAA rs397856854
NM_004937.2(CTNS):c.*1957dupA rs397856854
NM_004937.2(CTNS):c.*2036G>A rs184828971
NM_004937.2(CTNS):c.*2119G>T rs80249487
NM_004937.2(CTNS):c.*2127G>A rs72835828
NM_004937.2(CTNS):c.*2132G>A rs74485511
NM_004937.2(CTNS):c.*2195G>A rs886052883
NM_004937.2(CTNS):c.*2477C>G rs781672689
NM_004937.2(CTNS):c.*2492G>A rs886052884
NM_004937.2(CTNS):c.*262G>A rs201647994
NM_004937.2(CTNS):c.*280G>A rs200771636
NM_004937.2(CTNS):c.*431C>T rs886052868
NM_004937.2(CTNS):c.*55C>G rs751680506
NM_004937.2(CTNS):c.*577T>C rs886052869
NM_004937.2(CTNS):c.*654G>T rs886052870
NM_004937.2(CTNS):c.*847C>T rs146131305
NM_004937.2(CTNS):c.*871G>C rs886052871
NM_004937.2(CTNS):c.*942C>T rs140127855
NM_004937.2(CTNS):c.-136C>A rs886052863
NM_004937.2(CTNS):c.-20+13T>C rs780032861
NM_004937.2(CTNS):c.-213T>C rs537567463
NM_004937.2(CTNS):c.-21_-20delAG rs550436044
NM_004937.2(CTNS):c.-24C>T rs886052866
NM_004937.2(CTNS):c.-258G>A rs559229383
NM_004937.2(CTNS):c.-272A>C rs534368692
NM_004937.2(CTNS):c.-362C>T rs886052862
NM_004937.2(CTNS):c.-364G>T rs886052861
NM_004937.2(CTNS):c.-429T>C rs886052860
NM_004937.2(CTNS):c.-476G>A rs373260107
NM_004937.2(CTNS):c.-47A>C rs886052865
NM_004937.2(CTNS):c.-497C>T rs530371788
NM_004937.2(CTNS):c.-74A>T rs886052864
NM_004937.2(CTNS):c.-8C>T rs372701935
NM_004937.2(CTNS):c.1008T>G (p.Phe336Leu) rs762561354
NM_004937.2(CTNS):c.1024_1035del12 (p.Ser342_Phe345del) rs745806090
NM_004937.2(CTNS):c.1042_1044delGTC (p.Val348del) rs1555564879
NM_004937.2(CTNS):c.1075_1076delAA (p.Lys359Glufs) rs779451531
NM_004937.2(CTNS):c.1082C>T (p.Pro361Leu)
NM_004937.2(CTNS):c.1083G>A (p.Pro361=) rs371189196
NM_004937.2(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_004937.2(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_004937.2(CTNS):c.225+5_225+8delGTAA rs1555561048
NM_004937.2(CTNS):c.332C>T (p.Pro111Leu) rs149689304
NM_004937.2(CTNS):c.356G>A (p.Arg119His) rs375970075
NM_004937.2(CTNS):c.363C>T (p.Ser121=) rs746463725
NM_004937.2(CTNS):c.407T>G (p.Val136Gly) rs764372178
NM_004937.2(CTNS):c.425_427delTCT (p.Phe142del) rs1178364162
NM_004937.2(CTNS):c.444G>A (p.Met148Ile) rs199977728
NM_004937.2(CTNS):c.462-27_462-3del25 rs1555563374
NM_004937.2(CTNS):c.462-7C>A rs189632527
NM_004937.2(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.2(CTNS):c.622_624delTTC (p.Phe208del) rs1555563619
NM_004937.2(CTNS):c.694C>T (p.Arg232Cys) rs138823792
NM_004937.2(CTNS):c.695G>A (p.Arg232His) rs142641674
NM_004937.2(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.2(CTNS):c.82G>C (p.Val28Leu) rs759921102
NM_004937.2(CTNS):c.853-15G>A rs376050426
NM_004937.2(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.2(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.2(CTNS):c.94G>A (p.Val32Ile) rs146684402
NM_004937.2(CTNS):c.970G>A (p.Asp324Asn) rs140326392

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