ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome by Claritas Genomics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000082.3(ERCC8):c.141delC (p.Asn47Lysfs) rs786205176
NM_000124.3(ERCC6):c.1280dupT (p.Ser429Lysfs) rs786205166
NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.3(ERCC6):c.1526+1G>T rs371739894
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.3(ERCC6):c.1850dupG (p.Cys617Trpfs) rs786205167
NM_000124.3(ERCC6):c.1999delA (p.Thr667Profs) rs786205169
NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674
NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.3(ERCC6):c.2599-26A>G rs4253196
NM_000124.3(ERCC6):c.2830-2A>G rs373227647
NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs) rs786205170
NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) rs786205171
NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs) rs786205172
NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.3(ERCC6):c.4007delA (p.Asn1336Ilefs) rs786205175

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