ClinVar Miner

List of variants in gene ERCC6, ERCC6-PGBD3 studied for DNA repair disease

Included ClinVar conditions (95):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000124.2(ERCC6):c.972dupA (p.Glu325Argfs) rs387906262
NM_000124.3(ERCC6):c.-100A>G rs886047041
NM_000124.3(ERCC6):c.-107A>G rs886047042
NM_000124.3(ERCC6):c.-14-2A>G rs760663515
NM_000124.3(ERCC6):c.-15+11G>A rs766986601
NM_000124.3(ERCC6):c.-22G>A rs4253006
NM_000124.3(ERCC6):c.-52G>A rs550772412
NM_000124.3(ERCC6):c.-78G>T rs4253005
NM_000124.3(ERCC6):c.-83G>A rs886047040
NM_000124.3(ERCC6):c.-87C>A rs4253004
NM_000124.3(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.3(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1134_1142dup (p.Glu384_Asp385insGluGluGlu) rs1554793268
NM_000124.3(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.3(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.3(ERCC6):c.127_129del (p.Glu43del) rs751610688
NM_000124.3(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.3(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.3(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.3(ERCC6):c.207dup (p.Pro70Alafs) rs1554794641
NM_000124.3(ERCC6):c.214del (p.Leu72Cysfs) rs1554794640
NM_000124.3(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.3(ERCC6):c.259_260del (p.Ala87Profs) rs1554794620
NM_000124.3(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.3(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.3(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.3(ERCC6):c.422+1G>A rs1198472093
NM_000124.3(ERCC6):c.422+1G>C rs1198472093
NM_000124.3(ERCC6):c.439del (p.Leu147Terfs) rs1554794360
NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.3(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.3(ERCC6):c.528A>G (p.Arg176=) rs4253027
NM_000124.3(ERCC6):c.543+4delA rs527236039
NM_000124.3(ERCC6):c.544-2A>G rs1554794073
NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.3(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.3(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.3(ERCC6):c.779_780dup (p.Arg261Profs) rs1254008304
NM_000124.3(ERCC6):c.850_851insT (p.Glu284Valfs) rs797045562
NM_000124.3(ERCC6):c.858G>C (p.Lys286Asn) rs143260457
NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.3(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_001346440.1(ERCC6):c.1004delT (p.Leu335Profs) rs1554793305

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