ClinVar Miner

List of variants reported as not provided for Charcot-Marie-Tooth disease by GenomeConnect, ClinGen

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_002047.2(GARS1):c.-45C>G rs903029869
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) rs1954727878
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471

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.