ClinVar Miner

List of variants in gene combination ERCC6, ERCC6-PGBD3 reported as likely benign for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000124.4(ERCC6):c.-22G>A rs4253006
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457

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