ClinVar Miner

List of variants reported as likely pathogenic for pycnodysostosis by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) rs759107967 0.00001
NM_000396.4(CTSK):c.119del (p.Lys40fs)
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.239_243+1del
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.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter) rs2101951671
NM_000396.4(CTSK):c.581del (p.Gly194fs)
NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)
NM_000396.4(CTSK):c.655del (p.Ala219fs)
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.724_731del (p.Val242fs)
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) rs199919553
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)
NM_000396.4(CTSK):c.818del (p.Asn273fs)
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.947_948del (p.Asn316fs)
NM_000396.4(CTSK):c.9del (p.Leu4fs)

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