ClinVar Miner

List of variants studied for COFS syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3:c.1129delG
NM_000124.3(ERCC6):c.*1112G>A rs186262133
NM_000124.3(ERCC6):c.*118A>C rs4253233
NM_000124.3(ERCC6):c.*1275C>G rs182177140
NM_000124.3(ERCC6):c.*1279T>A rs189942338
NM_000124.3(ERCC6):c.*1314G>A rs542053472
NM_000124.3(ERCC6):c.*1327G>A rs117289374
NM_000124.3(ERCC6):c.*1383T>G rs886047023
NM_000124.3(ERCC6):c.*1780T>C rs188228522
NM_000124.3(ERCC6):c.*1830T>C rs11101137
NM_000124.3(ERCC6):c.*1860A>G rs886047022
NM_000124.3(ERCC6):c.*1872C>T rs115281814
NM_000124.3(ERCC6):c.*1933A>G rs748783305
NM_000124.3(ERCC6):c.*1964_*1966delATT rs147228327
NM_000124.3(ERCC6):c.*1981dupT rs557832376
NM_000124.3(ERCC6):c.*2137A>G rs114723899
NM_000124.3(ERCC6):c.*2155T>C rs114183603
NM_000124.3(ERCC6):c.*2237C>T rs192242583
NM_000124.3(ERCC6):c.*232dupT rs74561842
NM_000124.3(ERCC6):c.*2337A>C rs557944846
NM_000124.3(ERCC6):c.*341A>G rs886047030
NM_000124.3(ERCC6):c.*379C>G rs4253234
NM_000124.3(ERCC6):c.*388C>A rs886047029
NM_000124.3(ERCC6):c.*38A>G rs756639495
NM_000124.3(ERCC6):c.*482C>A rs886047028
NM_000124.3(ERCC6):c.*53T>C rs4253231
NM_000124.3(ERCC6):c.*643G>A rs886047027
NM_000124.3(ERCC6):c.*645G>C rs886047026
NM_000124.3(ERCC6):c.*681G>A rs547014227
NM_000124.3(ERCC6):c.*751G>A rs886047025
NM_000124.3(ERCC6):c.*755A>G rs886047024
NM_000124.3(ERCC6):c.*900C>T rs189979670
NM_000124.3(ERCC6):c.*933G>A rs3750751
NM_000124.3(ERCC6):c.*977A>G rs765959190
NM_000124.3(ERCC6):c.-100A>G rs886047041
NM_000124.3(ERCC6):c.-107A>G rs886047042
NM_000124.3(ERCC6):c.-15+11G>A rs766986601
NM_000124.3(ERCC6):c.-22G>A rs4253006
NM_000124.3(ERCC6):c.-52G>A rs550772412
NM_000124.3(ERCC6):c.-78G>T rs4253005
NM_000124.3(ERCC6):c.-83G>A rs886047040
NM_000124.3(ERCC6):c.-87C>A rs4253004
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.3(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.3(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.3(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.3(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.3(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.3(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.3(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.3(ERCC6):c.1436G>A (p.Arg479His) rs139161933
NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.3(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.3(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.3(ERCC6):c.1821+7C>T rs4253132
NM_000124.3(ERCC6):c.1992+7C>T rs373710355
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.3(ERCC6):c.2125G>A (p.Val709Ile) rs369437807
NM_000124.3(ERCC6):c.2287-3T>C rs780652533
NM_000124.3(ERCC6):c.2287-4G>A rs375617750
NM_000124.3(ERCC6):c.2287-5C>T rs772880581
NM_000124.3(ERCC6):c.2337C>T (p.Phe779=) rs114490473
NM_000124.3(ERCC6):c.2365C>G (p.Leu789Val) rs139913322
NM_000124.3(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.3(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.3(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.3(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.3(ERCC6):c.2487_2489delAGA (p.Glu829del) rs886047036
NM_000124.3(ERCC6):c.2598+7G>A rs769421755
NM_000124.3(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.3(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.3(ERCC6):c.2697G>A (p.Thr899=) rs761802751
NM_000124.3(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.3(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.3(ERCC6):c.2829+11A>T rs777251839
NM_000124.3(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.3(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.3(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157
NM_000124.3(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729
NM_000124.3(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.3(ERCC6):c.3186T>C (p.Ser1062=) rs35365613
NM_000124.3(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.3(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.3(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.3(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.3(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.3(ERCC6):c.3594A>G (p.Lys1198=) rs374791168
NM_000124.3(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.3(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.3(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.3(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.3(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.3(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761
NM_000124.3(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.3(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.3(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.3(ERCC6):c.4211G>A (p.Arg1404His) rs755854972
NM_000124.3(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.3(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.3(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039
NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.3(ERCC6):c.4438_4440delTCT (p.Ser1480del) rs886047032
NM_000124.3(ERCC6):c.528A>G (p.Arg176=) rs4253027
NM_000124.3(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.3(ERCC6):c.858G>C (p.Lys286Asn) rs143260457
NM_000124.3(ERCC6):c.901C>T (p.Pro301Ser) rs766256094

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