ClinVar Miner

List of variants in gene BRPF1 studied for Inborn genetic diseases

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.3069-4A>T rs199603306 0.00091
NM_001003694.2(BRPF1):c.2543G>A (p.Arg848Gln) rs35926012 0.00048
NM_001003694.2(BRPF1):c.1382A>G (p.His461Arg) rs781638484 0.00027
NM_001003694.2(BRPF1):c.2525G>A (p.Arg842Gln) rs368809369 0.00011
NM_001003694.2(BRPF1):c.1360C>T (p.Arg454Cys) rs765130214 0.00009
NM_001003694.2(BRPF1):c.3175G>A (p.Val1059Met) rs757177099 0.00009
NM_001003694.2(BRPF1):c.1963G>A (p.Glu655Lys) rs374891106 0.00008
NM_001003694.2(BRPF1):c.2438G>A (p.Arg813Gln) rs367772453 0.00007
NM_001003694.2(BRPF1):c.1451A>G (p.Lys484Arg) rs139007155 0.00006
NM_001003694.2(BRPF1):c.2509C>T (p.Arg837Cys) rs147641228 0.00004
NM_001003694.2(BRPF1):c.3188G>A (p.Arg1063His) rs374567525 0.00004
NM_001003694.2(BRPF1):c.3227G>A (p.Arg1076Gln) rs371004808 0.00004
NM_001003694.2(BRPF1):c.2075G>A (p.Arg692His) rs150442469 0.00003
NM_001003694.2(BRPF1):c.2216G>A (p.Arg739Gln) rs761768276 0.00003
NM_001003694.2(BRPF1):c.2917A>G (p.Met973Val) rs752031512 0.00003
NM_001003694.2(BRPF1):c.3181A>G (p.Thr1061Ala) rs550141300 0.00003
NM_001003694.2(BRPF1):c.3193G>A (p.Val1065Met) rs766950626 0.00003
NM_001003694.2(BRPF1):c.3218G>A (p.Ser1073Asn) rs199508235 0.00003
NM_001003694.2(BRPF1):c.1040G>A (p.Arg347His) rs149733062 0.00002
NM_001003694.2(BRPF1):c.506C>G (p.Ser169Cys) rs374585008 0.00002
NM_001003694.2(BRPF1):c.1472G>A (p.Arg491Gln) rs755029827 0.00001
NM_001003694.2(BRPF1):c.2111A>G (p.Asn704Ser) rs767439975 0.00001
NM_001003694.2(BRPF1):c.2155A>G (p.Ile719Val) rs2077059083 0.00001
NM_001003694.2(BRPF1):c.2437C>T (p.Arg813Trp) rs778755726 0.00001
NM_001003694.2(BRPF1):c.2516G>A (p.Gly839Asp) rs768844191 0.00001
NM_001003694.2(BRPF1):c.2756A>G (p.Lys919Arg) rs1454075853 0.00001
NM_001003694.2(BRPF1):c.2810C>T (p.Pro937Leu) rs754077680 0.00001
NM_001003694.2(BRPF1):c.2843G>A (p.Arg948His) rs772800154 0.00001
NM_001003694.2(BRPF1):c.3365A>G (p.His1122Arg) rs532651964 0.00001
NM_001003694.2(BRPF1):c.3479+3_3479+5del rs747733388 0.00001
NM_001003694.2(BRPF1):c.359C>T (p.Ser120Leu) rs2076907391 0.00001
NM_001003694.2(BRPF1):c.492C>G (p.His164Gln) rs1330873013 0.00001
NM_001003694.2(BRPF1):c.55C>T (p.Pro19Ser) rs1238424249 0.00001
NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys) rs1385790156 0.00001
NM_001003694.2(BRPF1):c.985G>A (p.Asp329Asn) rs150922097 0.00001
NM_001003694.2(BRPF1):c.1018T>C (p.Phe340Leu) rs2471471413
NM_001003694.2(BRPF1):c.1117A>G (p.Ser373Gly) rs1416464575
NM_001003694.2(BRPF1):c.1273C>G (p.Pro425Ala)
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1414del (p.Glu472fs) rs2077000019
NM_001003694.2(BRPF1):c.1428G>C (p.Lys476Asn)
NM_001003694.2(BRPF1):c.1520C>T (p.Ala507Val) rs2471475091
NM_001003694.2(BRPF1):c.1722+1G>A rs2471482223
NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter) rs2471485111
NM_001003694.2(BRPF1):c.1826G>T (p.Arg609Leu) rs2471485648
NM_001003694.2(BRPF1):c.1924G>A (p.Glu642Lys) rs762309595
NM_001003694.2(BRPF1):c.1990G>C (p.Glu664Gln) rs751452778
NM_001003694.2(BRPF1):c.2057A>G (p.Gln686Arg)
NM_001003694.2(BRPF1):c.2068G>C (p.Ala690Pro)
NM_001003694.2(BRPF1):c.2072dup (p.Tyr691Ter) rs2471496829
NM_001003694.2(BRPF1):c.208C>G (p.Pro70Ala)
NM_001003694.2(BRPF1):c.208C>T (p.Pro70Ser)
NM_001003694.2(BRPF1):c.209C>T (p.Pro70Leu)
NM_001003694.2(BRPF1):c.2104G>A (p.Asp702Asn)
NM_001003694.2(BRPF1):c.2107T>G (p.Phe703Val) rs1337408318
NM_001003694.2(BRPF1):c.2108T>A (p.Phe703Tyr) rs2471496972
NM_001003694.2(BRPF1):c.2122A>G (p.Ser708Gly)
NM_001003694.2(BRPF1):c.2150A>G (p.Asp717Gly)
NM_001003694.2(BRPF1):c.2233A>G (p.Met745Val) rs2471497772
NM_001003694.2(BRPF1):c.2249A>T (p.Glu750Val)
NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs) rs1553696275
NM_001003694.2(BRPF1):c.2326C>T (p.Arg776Trp)
NM_001003694.2(BRPF1):c.2393G>A (p.Arg798Gln)
NM_001003694.2(BRPF1):c.2408A>G (p.Asn803Ser)
NM_001003694.2(BRPF1):c.2423G>A (p.Ser808Asn)
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs) rs2471501626
NM_001003694.2(BRPF1):c.2451G>C (p.Met817Ile) rs2471501783
NM_001003694.2(BRPF1):c.248A>T (p.Gln83Leu)
NM_001003694.2(BRPF1):c.2746C>T (p.Arg916Trp) rs376977957
NM_001003694.2(BRPF1):c.2770C>T (p.Gln924Ter)
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003694.2(BRPF1):c.2848C>T (p.Arg950Trp) rs748786588
NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs) rs1553693712
NM_001003694.2(BRPF1):c.292A>G (p.Met98Val) rs1248725460
NM_001003694.2(BRPF1):c.2933A>G (p.Asn978Ser)
NM_001003694.2(BRPF1):c.3005G>A (p.Arg1002Gln) rs750013639
NM_001003694.2(BRPF1):c.3086A>C (p.Gln1029Pro)
NM_001003694.2(BRPF1):c.309G>C (p.Leu103Phe)
NM_001003694.2(BRPF1):c.3107T>C (p.Phe1036Ser)
NM_001003694.2(BRPF1):c.3137G>C (p.Ser1046Thr)
NM_001003694.2(BRPF1):c.3157G>A (p.Glu1053Lys) rs2125514706
NM_001003694.2(BRPF1):c.3170A>G (p.Tyr1057Cys)
NM_001003694.2(BRPF1):c.3190G>C (p.Gly1064Arg) rs368514084
NM_001003694.2(BRPF1):c.3191G>T (p.Gly1064Val)
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003694.2(BRPF1):c.345C>A (p.Asn115Lys)
NM_001003694.2(BRPF1):c.34C>T (p.His12Tyr)
NM_001003694.2(BRPF1):c.3631G>A (p.Glu1211Lys)
NM_001003694.2(BRPF1):c.363G>C (p.Glu121Asp) rs2471447119
NM_001003694.2(BRPF1):c.500A>G (p.Asn167Ser)
NM_001003694.2(BRPF1):c.524A>G (p.Lys175Arg) rs2471448184
NM_001003694.2(BRPF1):c.556C>G (p.Gln186Glu)
NM_001003694.2(BRPF1):c.659A>C (p.Glu220Ala) rs1408456569
NM_001003694.2(BRPF1):c.692G>C (p.Arg231Pro) rs756815466
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003694.2(BRPF1):c.770A>G (p.Tyr257Cys) rs2471469835
NM_001003694.2(BRPF1):c.785A>G (p.Asn262Ser) rs764754123
NM_001003694.2(BRPF1):c.790G>C (p.Gly264Arg) rs2471469967
NM_001003694.2(BRPF1):c.793G>A (p.Asp265Asn)
NM_001003694.2(BRPF1):c.794A>G (p.Asp265Gly)
NM_001003694.2(BRPF1):c.826T>C (p.Cys276Arg) rs2471470322
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs) rs2471470636
NM_001003694.2(BRPF1):c.917del (p.Gly306fs) rs2076991221

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