ClinVar Miner

List of variants in gene MPZ reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_161305674)_(161307434_?)del
NM_000530.8(MPZ):c.113T>A (p.Val38Asp)
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.235-1G>T
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.277G>C (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.303G>T (p.Trp101Cys)
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.309G>T (p.Gly103=) rs1131691852
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) rs1558154010
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu)
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe) rs863224449
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter)
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121

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.