ClinVar Miner

List of variants reported as likely pathogenic for Pyknodysostosis

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Total variants: 32
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HGVS dbSNP
NM_000396.4(CTSK):c.120+1G>A rs1057517279
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.243+1G>A rs1057517263
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
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.423_450del (p.Phe142fs) rs1057516627
NM_000396.4(CTSK):c.426del (p.Phe142fs) rs1057516514
NM_000396.4(CTSK):c.48del (p.Tyr17fs) rs1057516790
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.578G>A (p.Arg193Gln) rs781168584
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.669del (p.Tyr224fs) rs1553196945
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
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.926T>C (p.Leu309Pro) rs29001685
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814

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