ClinVar Miner

List of variants in gene MPZ reported as uncertain significance for Charcot-Marie-Tooth disease, type I

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Total variants: 80
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HGVS dbSNP
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys)
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp) rs1558155851
NM_000530.8(MPZ):c.116A>G (p.His39Arg) rs371856018
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.154T>G (p.Phe52Val) rs1558154644
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys) rs1571820100
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala) rs1553259785
NM_000530.8(MPZ):c.162C>A (p.Ser54=)
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg) rs1060503421
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp) rs1060503422
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp) rs749459367
NM_000530.8(MPZ):c.215G>T (p.Gly72Val) rs773724920
NM_000530.8(MPZ):c.234G>A (p.Ser78=)
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro)
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser)
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser)
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys) rs1553259700
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn) rs1558154208
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.275T>A (p.Val92Glu)
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del) rs1060503419
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn) rs777378929
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr) rs777378929
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.325G>C (p.Asp109His)
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro) rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr)
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala) rs878854030
NM_000530.8(MPZ):c.382G>C (p.Asp128His)
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.394C>G (p.Pro132Ala) rs1553259649
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) rs1553259649
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala)
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet) rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly)
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu) rs1571818721
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431_433del (p.Leu144_Tyr145delinsHis)
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys)
NM_000530.8(MPZ):c.448G>A (p.Val150Met) rs1558153967
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala) rs764402416
NM_000530.8(MPZ):c.505G>T (p.Val169Leu)
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys) rs573456055
NM_000530.8(MPZ):c.532G>C (p.Val178Leu) rs1238706311
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly) rs1385085988
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys) rs372051998
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.584+3A>T
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu) rs1064796625
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln) rs147718043
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-3C>G rs750756212
NM_000530.8(MPZ):c.646-5C>A
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala)
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288
NM_000530.8(MPZ):c.67+5G>T
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.68-5T>G rs1553259835
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala) rs775575673
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu) rs749722729
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln)
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu) rs1386345719
NM_000530.8(MPZ):c.95T>G (p.Val32Gly)

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