ClinVar Miner

List of variants reported as pathogenic for Cockayne syndrome type 2

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NC_000010.10:g.(?_49383876)_(52383915_?)del
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1914del (p.Arg637_Tyr638insTer)
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.439dup (p.Leu147fs)
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262

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