ClinVar Miner

List of variants in gene ERCC6 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00082
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
NM_000124.4(ERCC6):c.3643G>A (p.Ala1215Thr) rs377041857 0.00003
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000124.4(ERCC6):c.2058G>C (p.Trp686Cys) rs751292948
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4096G>A (p.Val1366Ile) rs745758957

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