ClinVar Miner

List of variants in gene ERCC6 studied for ERCC6-Related Disorders

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.4350dup (p.Leu1451fs) rs1310971069 0.00001
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.3850del (p.Ala1284fs) rs1564725879
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605

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