ClinVar Miner

List of variants in gene MPZ studied for Charcot-Marie-Tooth disease dominant intermediate D

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.*752G>A rs533147214 0.00034
NM_000530.8(MPZ):c.*341A>G rs557613782 0.00033
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_000530.8(MPZ):c.*435T>G rs868502674 0.00026
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*102C>T rs774748921 0.00007
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.*522C>A rs900816889 0.00002
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
NM_000530.8(MPZ):c.*369C>T rs1359055917 0.00001
NM_000530.8(MPZ):c.*903G>A rs1489097338 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_000530.8(MPZ):c.*4T>G rs1670223090
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.103G>C (p.Asp35His) rs121913596
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.112G>T (p.Val38Phe) rs2102260135
NM_000530.8(MPZ):c.119G>T (p.Gly40Val)
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) rs1670288209
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) rs121913602
NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.253G>T (p.Gly85Ter)
NM_000530.8(MPZ):c.279G>T (p.Gly93=)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) rs1558154010
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) rs1670257548
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)

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