List of variants in gene CTSK reported as uncertain significance for pycnodysostosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000396.4(CTSK):c.399+9C>T	rs188468815	0.00101
NM_000396.4(CTSK):c.-1-9C>T	rs200480574	0.00083
NM_000396.4(CTSK):c.684C>T (p.Pro228=)	rs142097792	0.00041
NM_000396.4(CTSK):c.812G>A (p.Ser271Asn)	rs183135762	0.00016
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)	rs201446793	0.00015
NM_000396.4(CTSK):c.*342C>T	rs201937004	0.00011
NM_000396.4(CTSK):c.22C>T (p.Leu8=)	rs138360770	0.00009
NM_000396.4(CTSK):c.244-10_244-8del	rs774922287	0.00009
NM_000396.3(CTSK):c.-72T>C	rs187955801	0.00006
NM_000396.4(CTSK):c.*467A>G	rs201446377	0.00005
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	rs201772791	0.00004
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)	rs190892496	0.00004
NM_000396.3(CTSK):c.-185C>T	rs886045275	0.00003
NM_000396.3(CTSK):c.-91G>A	rs587638612	0.00003
NM_000396.4(CTSK):c.375A>G (p.Gly125=)	rs766065317	0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	rs781168584	0.00002
NM_000396.3(CTSK):c.-83G>A	rs1485596531	0.00001
NM_000396.4(CTSK):c.115A>T (p.Asn39Tyr)	rs771768736	0.00001
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)	rs1553197383	0.00001
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser)	rs774888582	0.00001
NM_000396.4(CTSK):c.685G>A (p.Glu229Lys)	rs200515162	0.00001
NM_000396.4(CTSK):c.*461C>A	rs200974564
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)	rs750595350
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)	rs1553197476
NM_000396.4(CTSK):c.243+4A>G	rs2101953449
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)	rs762212949
NM_000396.4(CTSK):c.490C>A (p.Pro164Thr)	rs886045274
NM_000396.4(CTSK):c.503T>C (p.Val168Ala)	rs1309902734
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)	rs747914097
NM_000396.4(CTSK):c.606A>G (p.Pro202=)	rs1654040742
NM_000396.4(CTSK):c.633G>A (p.Met211Ile)
NM_000396.4(CTSK):c.637_639del (p.Asn213del)
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)	rs770343722
NM_000396.4(CTSK):c.881T>C (p.Ile294Thr)
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	rs2101947591
NM_000396.4(CTSK):c.890+6G>A	rs886045273

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