ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) rs0
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) rs1602382829
NM_000533.5(PLP1):c.384_393del (p.Gln129fs) rs1556267215
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+159G>A rs1602383261
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.454-312C>G rs1602383723
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) rs797045890
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) rs0
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_020435.4(GJC2):c.-20G>C rs1558116949
NM_020435.4(GJC2):c.591dup (p.His198fs) rs1455411788
PLP1, DEL rs0
PLP1, DUP rs0

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.