ClinVar Miner

List of variants in gene BRPF1 studied for Intellectual developmental disorder with dysmorphic facies and ptosis

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.1854+24A>G rs696513 0.29090
NM_001003694.2(BRPF1):c.63C>T (p.Tyr21=) rs116359925 0.00175
NM_001003694.2(BRPF1):c.1382A>G (p.His461Arg) rs781638484 0.00027
NM_001003694.2(BRPF1):c.535G>C (p.Val179Leu) rs747548475 0.00003
NM_001003694.2(BRPF1):c.482A>G (p.Asn161Ser) rs760729926 0.00002
NM_001003694.2(BRPF1):c.1748C>T (p.Ala583Val) rs1449069293 0.00001
NM_001003694.2(BRPF1):c.2074C>T (p.Arg692Cys) rs780354293 0.00001
NM_001003694.2(BRPF1):c.2111A>G (p.Asn704Ser) rs767439975 0.00001
NM_001003694.2(BRPF1):c.2219G>A (p.Arg740His) rs1359599082 0.00001
NM_001003694.2(BRPF1):c.2497C>T (p.Arg833Ter) rs1057519512 0.00001
NM_001003694.2(BRPF1):c.282G>T (p.Gln94His) rs751469381 0.00001
NM_001003694.2(BRPF1):c.47C>T (p.Ala16Val) rs1465578133 0.00001
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met) rs2125500407 0.00001
NM_001003694.2(BRPF1):c.89A>G (p.Lys30Arg) rs2471445235 0.00001
NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys) rs1385790156 0.00001
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs) rs2125500625
NM_001003694.2(BRPF1):c.104dup (p.Tyr35Ter) rs1057519517
NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs) rs886041090
NM_001003694.2(BRPF1):c.1108C>T (p.Pro370Ser) rs1057519509
NM_001003694.2(BRPF1):c.1142G>A (p.Arg381His) rs1318897338
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) rs2076994968
NM_001003694.2(BRPF1):c.1165T>C (p.Cys389Arg) rs1057519515
NM_001003694.2(BRPF1):c.1181C>T (p.Ser394Leu) rs2471472509
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser) rs2471472558
NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter) rs759029777
NM_001003694.2(BRPF1):c.1240G>C (p.Ala414Pro) rs2076996518
NM_001003694.2(BRPF1):c.1313del (p.Val438fs) rs2076997522
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter) rs2471481346
NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter) rs2125503212
NM_001003694.2(BRPF1):c.1743C>A (p.Asn581Lys) rs2077026060
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) rs1559662068
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter) rs1559662077
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs) rs2125504267
NM_001003694.2(BRPF1):c.1831C>T (p.Arg611Trp) rs1177286410
NM_001003694.2(BRPF1):c.1870A>G (p.Ile624Val) rs2471490235
NM_001003694.2(BRPF1):c.1952A>G (p.Asn651Ser) rs2077041852
NM_001003694.2(BRPF1):c.196C>T (p.Arg66Cys) rs755029735
NM_001003694.2(BRPF1):c.1990G>A (p.Glu664Lys) rs751452778
NM_001003694.2(BRPF1):c.2004_2005del (p.Val668_Pro669insTer) rs2471496418
NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg) rs2125507908
NM_001003694.2(BRPF1):c.218A>G (p.Lys73Arg) rs1447732161
NM_001003694.2(BRPF1):c.2213C>G (p.Ala738Gly) rs2077060272
NM_001003694.2(BRPF1):c.227C>T (p.Pro76Leu) rs2076904563
NM_001003694.2(BRPF1):c.2297A>G (p.His766Arg) rs1418794034
NM_001003694.2(BRPF1):c.2311+1G>A rs2077062359
NM_001003694.2(BRPF1):c.2339T>A (p.Leu780Gln) rs2077069157
NM_001003694.2(BRPF1):c.2345_2346del (p.Asn782fs)
NM_001003694.2(BRPF1):c.2362G>A (p.Val788Met) rs1575163738
NM_001003694.2(BRPF1):c.241G>A (p.Val81Ile) rs2076904769
NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs) rs2471501529
NM_001003694.2(BRPF1):c.2515G>A (p.Gly839Ser) rs747151437
NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer) rs2471502469
NM_001003694.2(BRPF1):c.2573G>T (p.Cys858Phe) rs764921315
NM_001003694.2(BRPF1):c.2588A>C (p.Gln863Pro) rs2471502725
NM_001003694.2(BRPF1):c.2798del (p.Pro933fs) rs2125511510
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs) rs2471506555
NM_001003694.2(BRPF1):c.2849G>C (p.Arg950Pro)
NM_001003694.2(BRPF1):c.2851G>A (p.Gly951Ser) rs2077087707
NM_001003694.2(BRPF1):c.2921-2A>C
NM_001003694.2(BRPF1):c.2926C>T (p.Pro976Ser) rs2077099082
NM_001003694.2(BRPF1):c.2982C>G (p.Tyr994Ter) rs1057519514
NM_001003694.2(BRPF1):c.2996G>A (p.Ser999Asn) rs2471511168
NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg) rs2125489641
NM_001003694.2(BRPF1):c.3068+1G>T rs2077101479
NM_001003694.2(BRPF1):c.3069-1G>A rs2471514640
NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp) rs2125514693
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs) rs2125515297
NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter) rs1057519513
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003694.2(BRPF1):c.3571C>A (p.Arg1191Ser) rs2471524750
NM_001003694.2(BRPF1):c.362A>C (p.Glu121Ala) rs2125490572
NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs) rs1057519511
NM_001003694.2(BRPF1):c.396del (p.Asn132fs) rs2471447399
NM_001003694.2(BRPF1):c.433A>G (p.Thr145Ala) rs774092120
NM_001003694.2(BRPF1):c.452A>T (p.His151Leu)
NM_001003694.2(BRPF1):c.491dup (p.His164fs) rs2471447986
NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter) rs1367505804
NM_001003694.2(BRPF1):c.567del (p.Asp190fs) rs1057519516
NM_001003694.2(BRPF1):c.598del (p.Arg200fs) rs2471448650
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg) rs2076901423
NM_001003694.2(BRPF1):c.694C>T (p.Arg232Trp) rs778333888
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003694.2(BRPF1):c.809T>A (p.Val270Glu) rs2471470187
NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter) rs1553695017
NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter) rs2471470926
NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter) rs2471470951
NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter) rs2125500524

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