ClinVar Miner

List of variants reported as uncertain significance for UV-sensitive syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
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

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