List of variants in gene SLC25A12 reported as uncertain significance for Developmental and epileptic encephalopathy, 39

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)	rs780650245	0.00058
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)	rs142912356	0.00049
NM_003705.5(SLC25A12):c.930+3dup	rs746487507	0.00014
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln)	rs2105837625	0.00002
NM_003705.5(SLC25A12):c.*994C>T	rs189758490	0.00001
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)	rs758457969	0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=)	rs772468981	0.00001
NM_003705.5(SLC25A12):c.67-6T>A	rs1302626614	0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp)	rs757002057	0.00001
NM_003705.4(SLC25A12):c.-67_-66GC[7]	rs759200327
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met)	rs201557997
NM_003705.5(SLC25A12):c.274_276del (p.Ile92del)
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys)	rs1685033697
NM_003705.5(SLC25A12):c.622G>A (p.Gly208Arg)

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.