ClinVar Miner

List of variants reported as not provided for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
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_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_001358263.1(HK1):c.-290G>C rs797044964
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.1736G>A (p.Arg579His) rs281865063
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile) rs281865064
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061

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.