ClinVar Miner

List of variants in gene ERCC6, ERCC6-PGBD3 studied for Cockayne syndrome type 2

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.-107A>G rs886047042 0.00004
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039 0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu) rs1218964618 0.00001
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.22del (p.His8fs)
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780

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