List of variants in gene MMAB reported as likely pathogenic by Counsyl

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	rs398124434	0.00002
NM_052845.4(MMAB):c.197-2del	rs1555275604
NM_052845.4(MMAB):c.349-1G>C	rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	rs1555274496
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	rs756414548
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)	rs1555274497
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)	rs1555274493
NM_052845.4(MMAB):c.583_584+18del	rs1555274484
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)	rs1383825118

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.