ClinVar Miner

List of variants in gene CTSK reported as likely pathogenic for pycnodysostosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000396.4(CTSK):c.120+1G>A rs1057517279 0.00003
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814 0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00002
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327 0.00001
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) rs759107967 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_000396.4(CTSK):c.113del (p.Asn38fs)
NM_000396.4(CTSK):c.119del (p.Lys40fs)
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.127G>T (p.Glu43Ter)
NM_000396.4(CTSK):c.148T>G (p.Trp50Gly) rs2101953595
NM_000396.4(CTSK):c.150G>A (p.Trp50Ter)
NM_000396.4(CTSK):c.151dup (p.Glu51fs)
NM_000396.4(CTSK):c.163A>T (p.Lys55Ter)
NM_000396.4(CTSK):c.169_170del (p.Ile57fs)
NM_000396.4(CTSK):c.190_200del (p.Ala64fs) rs760640027
NM_000396.4(CTSK):c.20T>C (p.Leu7Pro)
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)
NM_000396.4(CTSK):c.239_243+1del
NM_000396.4(CTSK):c.243+1G>A rs1057517263
NM_000396.4(CTSK):c.244-29A>G rs1654085401
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.274G>T (p.Gly92Ter)
NM_000396.4(CTSK):c.334G>T (p.Glu112Ter)
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)
NM_000396.4(CTSK):c.399+2del rs1057516839
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.400-1G>C rs1553197262
NM_000396.4(CTSK):c.417T>A (p.Cys139Ter)
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter) rs2101951671
NM_000396.4(CTSK):c.423_450del (p.Phe142fs) rs1057516627
NM_000396.4(CTSK):c.426del (p.Phe142fs) rs1057516514
NM_000396.4(CTSK):c.475_476insAGCCATCATTG (p.Leu159fs)
NM_000396.4(CTSK):c.48del (p.Tyr17fs) rs1057516790
NM_000396.4(CTSK):c.547A>C (p.Thr183Pro) rs1654042476
NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) rs2101951483
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) rs1553197239
NM_000396.4(CTSK):c.581del (p.Gly194fs)
NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)
NM_000396.4(CTSK):c.616C>T (p.Gln206Ter)
NM_000396.4(CTSK):c.618+1G>A rs1553197230
NM_000396.4(CTSK):c.618+2T>G rs75481239
NM_000396.4(CTSK):c.648del (p.Lys217fs) rs1057516891
NM_000396.4(CTSK):c.655del (p.Ala219fs)
NM_000396.4(CTSK):c.658A>T (p.Lys220Ter)
NM_000396.4(CTSK):c.669del (p.Tyr224fs) rs1553196945
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.690del (p.Asn231fs)
NM_000396.4(CTSK):c.696_697del (p.Lys233fs)
NM_000396.4(CTSK):c.712delinsTCAGGCTTGCAT (p.Ala238fs)
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.724_731del (p.Val242fs)
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) rs199919553
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)
NM_000396.4(CTSK):c.818del (p.Asn273fs)
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) rs1571123333
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.827A>G (p.His276Arg) rs2101947647
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) rs1553196900
NM_000396.4(CTSK):c.891-21_892dup rs1553196764
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000396.4(CTSK):c.947_948del (p.Asn316fs)
NM_000396.4(CTSK):c.9del (p.Leu4fs)

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