ClinVar Miner

List of variants in gene PMP22 studied for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
NC_000017.10:g.(?_15133094)_(15164078_?)dup
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.15133096_15164093dup
NM_000304.4(PMP22):c.102C>A (p.His34Gln) rs779654897
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) rs104894620
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.257_267del (p.Gln86fs)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.