ClinVar Miner

List of variants studied for Cerebrooculofacioskeletal syndrome 3

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 0.00059
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser) rs778333931 0.00020
NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys) rs4150315 0.00017
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292 0.00011
NM_000123.4(ERCC5):c.529-3C>T rs372122917 0.00005
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350 0.00003
NM_000123.4(ERCC5):c.844G>A (p.Val282Ile) rs747651424 0.00003
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) rs770177920 0.00002
NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val) rs768296301 0.00001
NM_000123.3:c.89-?_528+?del
NM_000123.4(ERCC5):c.1068del (p.Ser357fs) rs1325131028
NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr) rs2140527689
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter) rs1882701423
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly) rs766211518
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del) rs1882858341
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834
NM_000123.4(ERCC5):c.2788C>G (p.Pro930Ala)
NM_000123.4(ERCC5):c.480del (p.Asp161fs)
NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys) rs762256976

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