ClinVar Miner

List of variants in gene DLD reported as likely pathogenic for hereditary peripheral neuropathy

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000108.5(DLD):c.1016del (p.Val339fs)
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
NM_000108.5(DLD):c.1047-1G>A
NM_000108.5(DLD):c.1047-2A>G
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) rs2032293119
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) rs2032293586
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1185dup (p.His396fs)
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
NM_000108.5(DLD):c.119-1G>A rs2116206966
NM_000108.5(DLD):c.119-1G>T
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs) rs1402761530
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.198+1G>T
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.19dup (p.Val7fs)
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
NM_000108.5(DLD):c.259C>T (p.Pro87Ser)
NM_000108.5(DLD):c.268-1G>A
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) rs2031930307
NM_000108.5(DLD):c.337+1G>T
NM_000108.5(DLD):c.337+4_337+7del
NM_000108.5(DLD):c.338-1G>A
NM_000108.5(DLD):c.338-2A>G
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.40-2A>G
NM_000108.5(DLD):c.439-1G>C
NM_000108.5(DLD):c.439-2A>G
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
NM_000108.5(DLD):c.582+2T>C
NM_000108.5(DLD):c.583-1G>C rs2032004082
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.737del (p.Gly246fs)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) rs2032247686
NM_000108.5(DLD):c.801del (p.Lys267fs)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) rs2032249629
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000108.5(DLD):c.875+1G>T rs1328820332
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) rs2032281944
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) rs2032282970
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)

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