ClinVar Miner

List of variants in gene ERCC4 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.*675G>T rs1651203 0.02273
NM_005236.3(ERCC4):c.*3537C>T rs113073720 0.01062
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_005236.3(ERCC4):c.*1056A>G rs72781468 0.00713
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.*3200A>G rs8056393 0.00563
NM_005236.3(ERCC4):c.*2816A>T rs146325817 0.00547
NM_005236.3(ERCC4):c.*947T>C rs117293226 0.00526
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_005236.3(ERCC4):c.*3727G>T rs560338292 0.00312
NM_005236.3(ERCC4):c.*3911C>T rs552082015 0.00312
NM_005236.3(ERCC4):c.*3439G>A rs192113185 0.00297
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.*2139A>C rs140019040 0.00284
NM_005236.3(ERCC4):c.*1708G>A rs528435639 0.00281
NM_005236.3(ERCC4):c.*701A>T rs146955145 0.00254
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_005236.3(ERCC4):c.*1353G>A rs77401662 0.00026
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_005236.3(ERCC4):c.*558A>C rs376791839
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644

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