List of variants reported as benign for Mucolipidosis type IV by Natera, Inc.

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=)	rs612862	0.28776
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)	rs61736600	0.06042
NM_020533.3(MCOLN1):c.405+13G>A	rs73488492	0.01978
NM_020533.3(MCOLN1):c.777+99G>A	rs12462124	0.01482
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=)	rs147754092	0.00231
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val)	rs141240937	0.00119
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=)	rs180687633	0.00013
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)	rs528887619	0.00003
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg)	rs113261161
NM_020533.3(MCOLN1):c.777+12dup	rs563339019

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.