ClinVar Miner

List of variants in gene MPZ reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544
NM_000530.8(MPZ):c.236T>C (p.Ile79Thr) rs1558154256
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.254G>C (p.Gly85Ala) rs1571819324
NM_000530.8(MPZ):c.260C>A (p.Pro87His) rs1571819314
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000530.8(MPZ):c.270C>T (p.Asp90=)
NM_000530.8(MPZ):c.284T>C (p.Phe95Ser) rs1057519159
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)
NM_000530.8(MPZ):c.366T>G (p.Asn122Lys) rs1064797124
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.417C>T (p.Thr139=) rs1571818696
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.691G>C (p.Ala231Pro) rs1471261466
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825
NM_000530.8(MPZ):c.91G>A (p.Val31Met)

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.