ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by Inherited Neuropathy Consortium

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
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)
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000530.8(MPZ):c.123_125del (p.Val42del)
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
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)
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_181882.2(PRX):c.1174C>T (p.Arg392Ter) rs773009397
NM_181882.2(PRX):c.2035C>T (p.Arg679Ter)

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