ClinVar Miner

List of variants in gene ERCC3 studied for DNA repair disease

Included ClinVar conditions (95):
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Gene type:
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Total variants: 45
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HGVS dbSNP
ERCC3, IVS14AS, C-A, -6
NM_000122.1(ERCC3):c.*106T>C rs4150524
NM_000122.1(ERCC3):c.*177A>G rs4150525
NM_000122.1(ERCC3):c.*242dupA rs576058879
NM_000122.1(ERCC3):c.*259G>A rs1803541
NM_000122.1(ERCC3):c.*29C>T rs4150523
NM_000122.1(ERCC3):c.-19C>T rs184301749
NM_000122.1(ERCC3):c.-69C>T rs9282675
NM_000122.1(ERCC3):c.-98A>G rs4150398
NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) rs752026166
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) rs754010782
NM_000122.1(ERCC3):c.1119G>A (p.Gln373=) rs2228544
NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) rs371396764
NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) rs374264195
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) rs769083884
NM_000122.1(ERCC3):c.1421dupA (p.Asp474Glufs) rs587778281
NM_000122.1(ERCC3):c.1485G>A (p.Glu495=) rs4150456
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.1731-11T>C rs746754189
NM_000122.1(ERCC3):c.1887dup (p.Gly630Trpfs)
NM_000122.1(ERCC3):c.1929G>T (p.Val643=) rs375556869
NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904
NM_000122.1(ERCC3):c.2105C>T (p.Ala702Val) rs563550613
NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) rs114508982
NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) rs767507847
NM_000122.1(ERCC3):c.279C>T (p.Tyr93=) rs146938627
NM_000122.1(ERCC3):c.28+8G>A rs886054844
NM_000122.1(ERCC3):c.29-15G>T rs188356418
NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) rs145762413
NM_000122.1(ERCC3):c.471+1G>A
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter)
NM_000122.1(ERCC3):c.615G>A (p.Glu205=) rs13427563
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000122.1(ERCC3):c.657+15G>A rs781533251
NM_000122.1(ERCC3):c.793_794AC[1] (p.Gln266Aspfs)
NM_000122.1(ERCC3):c.809_810del (p.Phe270Terfs)
NM_000122.1(ERCC3):c.822+14C>T rs200833462
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.1:c.1757_1758delAG

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