ClinVar Miner

List of variants reported as uncertain significance for Cockayne syndrome type A by Counsyl

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Total variants: 15
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HGVS dbSNP
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726

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