ClinVar Miner

List of variants in gene ERCC3 reported as likely benign for Xeroderma pigmentosum

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_000122.2(ERCC3):c.1008G>A (p.Gly336=) rs115924997 0.00248
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) rs147499527 0.00050
NM_000122.2(ERCC3):c.1528-9G>A rs368660980 0.00048
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226 0.00024
NM_000122.2(ERCC3):c.2218-5G>A rs201054106 0.00016
NM_000122.2(ERCC3):c.1053G>C (p.Val351=) rs373666495 0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) rs371396764 0.00008
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) rs114508982 0.00006
NM_000122.2(ERCC3):c.429C>T (p.Leu143=) rs908044728 0.00006
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) rs752026166 0.00003
NM_000122.2(ERCC3):c.2218-6C>T rs200733704 0.00003
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) rs769083884 0.00001
NM_000122.2(ERCC3):c.1497T>C (p.Asn499=) rs1479882729 0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) rs1258857605 0.00001
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) rs1218748702
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.411C>G (p.Thr137=) rs774188273
NM_000122.2(ERCC3):c.882A>G (p.Glu294=) rs1486201257

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