ClinVar Miner

List of variants studied for DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00015
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
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.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00003
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.3662G>A (p.Arg1221Gln) rs200431100 0.00002
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2170-1G>A rs1310452605 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter) rs1554794590 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1088del (p.Ala363fs)
NM_000124.4(ERCC6):c.1115_1116del (p.Glu371_Ser372insTer)
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1531C>T (p.Gln511Ter)
NM_000124.4(ERCC6):c.1717_1720del (p.Cys573fs) rs766629930
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1993-5A>G
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.2260_2264del (p.Leu754fs)
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2683C>T (p.Gln895Ter)
NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs) rs751623760
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly) rs1850797114
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu) rs371100244
NM_000124.4(ERCC6):c.319C>T (p.Gln107Ter)
NM_000124.4(ERCC6):c.3539dup (p.His1181fs)
NM_000124.4(ERCC6):c.3656del (p.Gly1219fs)
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.547C>T (p.Gln183Ter)
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.787dup (p.Ile263fs)
NM_001277058.2(ERCC6):c.1418dup (p.Ser474fs)
NM_001277058.2(ERCC6):c.1867_1868insG (p.Ile623fs)
NM_001277058.2(ERCC6):c.1882A>G (p.Lys628Glu)
NM_001277058.2(ERCC6):c.2435del (p.Pro812fs)
NM_001277058.2(ERCC6):c.2731_2732del (p.Lys911fs)
NM_001277058.2(ERCC6):c.2901G>A (p.Trp967Ter)

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