ClinVar Miner

List of variants reported as benign for autosomal dominant limb-girdle muscular dystrophy type 1F by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) rs8043 0.49045
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) rs2305324 0.35727
NM_012470.4(TNPO3):c.2062-12T>G rs112438598 0.06913
NM_012470.4(TNPO3):c.2358G>A (p.Leu786=) rs11538884 0.04242
NM_012470.4(TNPO3):c.2205C>T (p.Leu735=) rs2293493 0.03941
NM_012470.4(TNPO3):c.321+16C>T rs17424179 0.02517
NM_012470.4(TNPO3):c.2154G>T (p.Arg718=) rs35060568 0.01445
NM_012470.4(TNPO3):c.2273+16G>A rs116108543 0.00200
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) rs149434536 0.00140
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_012470.4(TNPO3):c.396-19C>T rs182115682 0.00019
NM_012470.4(TNPO3):c.120+6G>A rs777627322 0.00010
NM_012470.4(TNPO3):c.2062-20A>G rs780511184 0.00009
NM_012470.4(TNPO3):c.906A>G (p.Leu302=) rs141881594 0.00009
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_012470.4(TNPO3):c.1158+17A>G rs764995047 0.00003
NM_012470.4(TNPO3):c.1359-12G>A rs369053779 0.00002
NM_012470.4(TNPO3):c.1011+15A>G rs373745582
NM_012470.4(TNPO3):c.1783-11del
NM_012470.4(TNPO3):c.1783-12T>A
NM_012470.4(TNPO3):c.2179-8del
NM_012470.4(TNPO3):c.2274-10del rs539653012
NM_012470.4(TNPO3):c.2274-5A>G rs567711266
NM_012470.4(TNPO3):c.2599-15del
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) rs548382251
NM_012470.4(TNPO3):c.2711+17del
NM_012470.4(TNPO3):c.697-3dup rs2150379563

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.