ClinVar Miner

List of variants studied for Cerebrooculofacioskeletal syndrome 1

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ClinVar version:
Total variants: 160
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HGVS dbSNP
ERCC6, 2-BP DEL, 3794AA
NM_000124.4(ERCC6):c.*1112G>A rs186262133
NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1383T>G rs886047023
NM_000124.4(ERCC6):c.*1780T>C rs188228522
NM_000124.4(ERCC6):c.*1805G>T
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*1933A>G rs748783305
NM_000124.4(ERCC6):c.*2031A>G
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2237C>T rs192242583
NM_000124.4(ERCC6):c.*2460T>C
NM_000124.4(ERCC6):c.*246T>C
NM_000124.4(ERCC6):c.*2540G>T
NM_000124.4(ERCC6):c.*2602A>G
NM_000124.4(ERCC6):c.*2662T>C
NM_000124.4(ERCC6):c.*2680A>C
NM_000124.4(ERCC6):c.*2729G>A
NM_000124.4(ERCC6):c.*2766T>G
NM_000124.4(ERCC6):c.*2946C>T
NM_000124.4(ERCC6):c.*2973C>G
NM_000124.4(ERCC6):c.*3217T>G
NM_000124.4(ERCC6):c.*3280A>G
NM_000124.4(ERCC6):c.*3356C>T
NM_000124.4(ERCC6):c.*3366G>A
NM_000124.4(ERCC6):c.*3395A>C
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*3684A>G
NM_000124.4(ERCC6):c.*3704C>T
NM_000124.4(ERCC6):c.*3720T>C
NM_000124.4(ERCC6):c.*3823T>C
NM_000124.4(ERCC6):c.*388C>A rs886047029
NM_000124.4(ERCC6):c.*38A>G rs756639495
NM_000124.4(ERCC6):c.*3921A>G
NM_000124.4(ERCC6):c.*3925A>G
NM_000124.4(ERCC6):c.*4019A>G
NM_000124.4(ERCC6):c.*4090G>A
NM_000124.4(ERCC6):c.*4208A>G
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*589A>G
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*681G>A rs547014227
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.*813C>T
NM_000124.4(ERCC6):c.*900C>T rs189979670
NM_000124.4(ERCC6):c.*922C>T
NM_000124.4(ERCC6):c.*977A>G rs765959190
NM_000124.4(ERCC6):c.-100A>G rs886047041
NM_000124.4(ERCC6):c.-107A>G rs886047042
NM_000124.4(ERCC6):c.-22G>A rs4253006
NM_000124.4(ERCC6):c.-32G>A
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-65G>A
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1686-12G>A
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1992+7C>T rs373710355
NM_000124.4(ERCC6):c.1993-12T>C
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) rs1590413260
NM_000124.4(ERCC6):c.2287-3T>C rs780652533
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2287-5C>T rs772880581
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2598+7G>A rs769421755
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.2829+11A>T rs777251839
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2925-8T>A rs147637331
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro)
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys)
NM_000124.4(ERCC6):c.3962C>G (p.Ser1321Cys)
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.3983+4A>G
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp)
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.423-7T>C
NM_000124.4(ERCC6):c.423-9A>C
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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