List of variants in gene NSDHL reported as uncertain significance by GeneDx

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu)	rs373717198	0.00031
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)	rs781879080	0.00001
NM_015922.3(NSDHL):c.963G>C (p.Gln321His)	rs1933659994	0.00001
NM_015922.3(NSDHL):c.-44+516G>T	rs2124999209
NM_015922.3(NSDHL):c.1058T>C (p.Val353Ala)	rs2125017673
NM_015922.3(NSDHL):c.1076T>C (p.Met359Thr)
NM_015922.3(NSDHL):c.1103A>G (p.His368Arg)
NM_015922.3(NSDHL):c.214G>A (p.Gly72Arg)	rs1933337369
NM_015922.3(NSDHL):c.398A>G (p.Lys133Arg)	rs1556847253
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)	rs587784223
NM_015922.3(NSDHL):c.664G>A (p.Gly222Ser)
NM_015922.3(NSDHL):c.707A>G (p.Asp236Gly)
NM_015922.3(NSDHL):c.790-3C>G	rs2125017342
NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)	rs2521816926
NM_015922.3(NSDHL):c.806A>G (p.Asn269Ser)	rs2125017354
NM_015922.3(NSDHL):c.834C>G (p.Phe278Leu)
NM_015922.3(NSDHL):c.869C>T (p.Ala290Val)	rs782041671
NM_015922.3(NSDHL):c.964C>G (p.Pro322Ala)	rs2521818791
NM_015922.3(NSDHL):c.973A>G (p.Thr325Ala)	rs2521818870
NM_015922.3(NSDHL):c.981G>A (p.Met327Ile)	rs2521818974

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.