ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_006502.2(POLH):c.1247_1249CTC[2] (p.Pro418del) rs747834463

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