List of variants in gene MPZL2 studied for Hearing loss, autosomal recessive 111

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)	rs74543584	0.00309
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter)	rs200462584	0.00024
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)	rs146689036	0.00015
NM_005797.4(MPZL2):c.161del (p.Pro54fs)	rs746218761
NM_005797.4(MPZL2):c.226-1G>A	rs1949708829
NM_005797.4(MPZL2):c.280C>T (p.Arg94Trp)	rs145401372
NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)
NM_005797.4(MPZL2):c.319_320dup (p.Ile108fs)	rs2134734280
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)	rs748685997
NM_005797.4(MPZL2):c.417del (p.Leu140fs)	rs777960413
NM_005797.4(MPZL2):c.463del (p.Ala155fs)	rs759432278
NM_005797.4(MPZL2):c.500dup (p.Ile168fs)
NM_005797.4(MPZL2):c.68del (p.Pro23fs)	rs1167608859
NM_005797.4(MPZL2):c.[220C>T];[463del]

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.