ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_139241.3(FGD4):c.956G>A (p.Arg319His)
NM_181882.2(PRX):c.1483_1560del (p.469_494ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.2(PRX):c.4318G>A (p.Val1440Met) rs138437458
NM_181882.2(PRX):c.979del (p.Asp327fs) rs1568708792

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