ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 3 by Inherited Neuropathy Consortium

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00002
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter) rs1469912467 0.00001
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro) rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile) rs1597608049
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro) rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) rs1597607967
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu) rs1597607638
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro) rs1597635666
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061

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