ClinVar Miner

List of variants reported as uncertain significance for pycnodysostosis by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (1):

Pyknodysostosis

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000396.4(CTSK):c.375A>G (p.Gly125=)	rs766065317	0.00002
NM_000396.4(CTSK):c.243+4A>G	rs2101953449
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	rs2101947591

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