ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.(?_161305674)_(161307434_?)del
NM_000530.8(MPZ):c.113T>A (p.Val38Asp) rs1670288801
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.156C>G (p.Phe52Leu) rs2102260015
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.235-2A>G
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
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) rs1558154149
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
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.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.394C>T (p.Pro132Ser) rs1553259649
NM_000530.8(MPZ):c.397C>G (p.Pro133Ala) rs1553259648
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.398C>G (p.Pro133Arg) rs1558154010
NM_000530.8(MPZ):c.403A>T (p.Ile135Leu) rs879253858
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.437T>C (p.Val146Ala) rs1571818614
NM_000530.8(MPZ):c.448+1G>A
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.448+2T>A
NM_000530.8(MPZ):c.448+2T>C rs1670257221
NM_000530.8(MPZ):c.448+2T>G rs1670257221
NM_000530.8(MPZ):c.68-1G>A rs1057518021
NM_000530.8(MPZ):c.68-1G>C rs1057518021
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121

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