List of variants in gene MLC1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.*1773G>C	rs80312581	0.01130
NM_015166.4(MLC1):c.279G>A (p.Ser93=)	rs11568172	0.00422
NM_015166.4(MLC1):c.*1499C>T	rs144067372	0.00332
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	rs138153307	0.00071
NM_015166.4(MLC1):c.64C>T (p.Arg22Trp)	rs202135704	0.00013
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015166.4(MLC1):c.858C>T (p.Ile286=)	rs140824687	0.00003
NM_015166.4(MLC1):c.111_112dup (p.Gln38fs)	rs2062239718
NM_015166.4(MLC1):c.268-2A>G
NM_015166.4(MLC1):c.487G>A (p.Ala163Thr)
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)	rs41302601

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.