List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2T by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	rs142336618	0.00054
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	rs142908436	0.00006
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	rs199922550	0.00005
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)	rs875989850	0.00003
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	rs397509425	0.00001
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	rs397509422
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)	rs875989851
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)	rs397509424

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.