List of variants reported as likely pathogenic for autosomal dominant chondrodysplasia punctata

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	rs80338711	0.00009
NM_000047.3(ARSL):c.24-1G>A	rs762627146	0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	rs1178912922	0.00001
NC_000023.10:g.(?_2873437)_(2876496_?)dup
NM_000047.3(ARSL):c.185+1G>A	rs2147401174
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)	rs2147394157
NM_000047.3(ARSL):c.23+1G>C	rs372316277
NM_000047.3(ARSL):c.24-2A>G	rs2518385575

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.