ClinVar Miner

List of variants in gene ERCC3 studied for Xeroderma pigmentosum

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Total variants: 60
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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.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
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.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly) rs116713511 0.00025
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226 0.00024
NM_000122.2(ERCC3):c.2064+5A>G rs372749473 0.00021
NM_000122.2(ERCC3):c.2218-5G>A rs201054106 0.00016
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg) rs201806429 0.00011
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.224C>T (p.Pro75Leu) rs553774995 0.00007
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
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.694A>G (p.Thr232Ala) rs201383161 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000122.2(ERCC3):c.143A>G (p.Glu48Gly) rs769971648 0.00004
NM_000122.2(ERCC3):c.1854G>A (p.Pro618=) rs765724086 0.00004
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) rs146938627 0.00004
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) rs752026166 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) rs563550613 0.00003
NM_000122.2(ERCC3):c.2218-6C>T rs200733704 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000122.2(ERCC3):c.1549G>A (p.Glu517Lys) rs781202683 0.00002
NM_000122.2(ERCC3):c.122C>T (p.Ala41Val) rs1239018301 0.00001
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.1635G>A (p.Gln545=) rs760111061 0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) rs1258857605 0.00001
NM_000122.2(ERCC3):c.472-10G>A rs369227601 0.00001
NM_000122.2(ERCC3):c.637A>G (p.Thr213Ala) rs760681360 0.00001
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000122.2(ERCC3):c.662C>T (p.Ser221Phe) rs1167535533 0.00001
NM_000122.2(ERCC3):c.*242dup rs576058879
NM_000122.2(ERCC3):c.1011C>A (p.Val337=) rs961366896
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1297C>G (p.Gln433Glu) rs766583866
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1343-10G>C rs576879627
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1510A>C (p.Lys504Gln) rs2104761804
NM_000122.2(ERCC3):c.1904A>G (p.Gln635Arg) rs1460478816
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) rs1218748702
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
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.2248A>G (p.Met750Val) rs369468852
NM_000122.2(ERCC3):c.235-1G>A rs1420747225
NM_000122.2(ERCC3):c.386T>C (p.Val129Ala) rs1315300796
NM_000122.2(ERCC3):c.411C>G (p.Thr137=) rs774188273
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.882A>G (p.Glu294=) rs1486201257

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