ClinVar Miner

List of variants reported as uncertain significance for Cockayne syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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