ClinVar Miner

List of variants in gene DLD reported as pathogenic for inborn disorder of branched-chain amino acid metabolism

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000108.5(DLD):c.946C>T (p.Arg316Ter) rs748682601 0.00002
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 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
NC_000007.13:g.(?_107531696)_(107533743_?)del
NC_000007.13:g.(?_107542163)_(107559704_?)del
NC_000007.13:g.(?_107556049)_(107558012_?)del
NC_000007.14:g.(?_107901728)_(107906378_?)del
NM_000108.5(DLD):c.104del (p.Tyr35fs)
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
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.1116_1117del (p.Ile372fs)
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.1139del (p.Gly380fs)
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter) rs757087726
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs) rs2116273912
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs) rs1402761530
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter) rs2116277809
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs) rs1214130226
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1464+1G>A
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
NM_000108.5(DLD):c.1A>C (p.Met1Leu)
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter) rs778122189
NM_000108.5(DLD):c.285_286del (p.His96fs)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs) rs2031929480
NM_000108.5(DLD):c.362del (p.Asp121fs) rs2116219533
NM_000108.5(DLD):c.380del (p.Lys127fs)
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter) rs2116221384
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.647del (p.Met216fs)
NM_000108.5(DLD):c.783del (p.Gln262fs) rs1562919685
NM_000108.5(DLD):c.813del (p.Lys271fs)
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)

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