List of variants in gene LMX1B reported as likely benign for bone development disease

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001174147.2(LMX1B):c.1106_1107del	rs201556524	0.02138
NM_001174147.2(LMX1B):c.*38G>A	rs201442685	0.00080
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=)	rs148940265	0.00056
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=)	rs544649941	0.00051
NM_001174147.2(LMX1B):c.140-4A>G	rs368126014	0.00047
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=)	rs372183654	0.00030
NM_001174147.2(LMX1B):c.327-17G>A	rs372620265	0.00026
NM_001174147.2(LMX1B):c.*13C>T	rs375458623	0.00021
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=)	rs146476348	0.00016
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=)	rs775705878	0.00011
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=)	rs536687637	0.00010
NM_001174147.2(LMX1B):c.*2739C>A	rs145602359	0.00009
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala)	rs767281663	0.00008
NM_001174147.2(LMX1B):c.139+19C>T	rs371424668	0.00006
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=)	rs540034621	0.00006
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)	rs550024836	0.00006
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=)	rs138385790	0.00004
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=)	rs779330478	0.00004
NM_001174147.2(LMX1B):c.741+14G>A	rs527313096	0.00002
NM_001174147.2(LMX1B):c.1052-19C>T	rs770215617	0.00001
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn)	rs772632723	0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=)	rs375657880	0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met)	rs181422024	0.00001
NM_001174147.2(LMX1B):c.*4568C>T	rs539011309
NM_001174147.2(LMX1B):c.*634CA[3]	rs147813553
NM_001174147.2(LMX1B):c.327-6C>T	rs572751023
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=)	rs34434402
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=)	rs368736494
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=)	rs145052881

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.