ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
NM_000399.5(EGR2):c.-49A>G
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
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.770G>A (p.Arg257Gln) rs780441708
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup) rs746688326
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)

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