ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by OMIM

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) rs587777713 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter) rs118203973 0.00001
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986 0.00001
NM_003172.4(SURF1):c.107-2A>G rs782726390 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs) rs1565921326
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_006096.4(NDRG1):c.538-1G>A rs11575976
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_030962.4(SBF2):c.1088_1296+646del
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.4(SBF2):c.4443+1G>C rs1564872328
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs) rs1599655206
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.385_394dup (p.Leu132fs) rs1599656972
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706

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.