List of variants in gene CTSK reported as pathogenic for bone development disease

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: 25

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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.121-1G>A	rs587663163	0.00002
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.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	rs1237746431	0.00001
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	rs1571122183	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000396.4(CTSK):c.120+1G>T	rs1057517279
NM_000396.4(CTSK):c.154A>T (p.Lys52Ter)	rs74315306
NM_000396.4(CTSK):c.158dup (p.Asn53fs)	rs764168526
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	rs74315305
NM_000396.4(CTSK):c.399+1G>A	rs2101953129
NM_000396.4(CTSK):c.402del (p.Gln135fs)	rs2101951682
NM_000396.4(CTSK):c.431_432del (p.Ser144fs)	rs2101951641
NM_000396.4(CTSK):c.458del (p.Lys153fs)	rs2101951608
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	rs202040269
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	rs1654102585
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.737_738del (p.Ser246fs)
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000396.4(CTSK):c.83dup (p.Trp29fs)	rs2101954034
NM_000396.4(CTSK):c.891-1G>T	rs1557823855
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)	rs2101946013
NM_000396.4(CTSK):c.990A>G (p.Ter330Trp)	rs74315301

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