ClinVar Miner

List of variants in gene BRF1 studied for Inborn genetic diseases

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001519.4(BRF1):c.1876G>A (p.Ala626Thr) rs139275410 0.00046
NM_001519.4(BRF1):c.1074C>G (p.Ser358Arg) rs61745396 0.00025
NM_001519.4(BRF1):c.1877C>T (p.Ala626Val) rs146244626 0.00019
NM_001519.4(BRF1):c.1201T>A (p.Trp401Arg) rs757884349 0.00017
NM_001519.4(BRF1):c.1067C>T (p.Ala356Val) rs776287971 0.00007
NM_001519.4(BRF1):c.1826C>G (p.Ala609Gly) rs587684940 0.00007
NM_001519.4(BRF1):c.1065C>T (p.Thr355=) rs201358103 0.00005
NM_001519.4(BRF1):c.1139A>G (p.Asp380Gly) rs765951217 0.00003
NM_001519.4(BRF1):c.1204G>A (p.Gly402Ser) rs146262464 0.00003
NM_001519.4(BRF1):c.1219G>A (p.Ala407Thr) rs1193523778 0.00003
NM_001519.4(BRF1):c.136A>G (p.Ser46Gly) rs587639646 0.00003
NM_001519.4(BRF1):c.1448G>A (p.Arg483Gln) rs138486604 0.00003
NM_001519.4(BRF1):c.1909C>T (p.His637Tyr) rs761258238 0.00003
NM_001519.4(BRF1):c.335A>T (p.Asn112Ile) rs765101934 0.00003
NM_001519.4(BRF1):c.776C>T (p.Thr259Met) rs373957300 0.00003
NM_001519.4(BRF1):c.1057G>A (p.Glu353Lys) rs775463298 0.00002
NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser) rs188142316 0.00002
NM_001519.4(BRF1):c.242C>T (p.Ser81Leu) rs892408346 0.00002
NM_001519.4(BRF1):c.868G>A (p.Asp290Asn) rs371691984 0.00002
NM_001519.4(BRF1):c.1192A>T (p.Ser398Cys) rs1314234410 0.00001
NM_001519.4(BRF1):c.1207G>A (p.Gly403Ser) rs767304692 0.00001
NM_001519.4(BRF1):c.1228T>A (p.Ser410Thr) rs769694291 0.00001
NM_001519.4(BRF1):c.1265G>A (p.Gly422Asp) rs1892308160 0.00001
NM_001519.4(BRF1):c.1516C>A (p.Pro506Thr) rs1331981866 0.00001
NM_001519.4(BRF1):c.1538G>A (p.Arg513Gln) rs371669872 0.00001
NM_001519.4(BRF1):c.1648G>A (p.Gly550Ser) rs751231414 0.00001
NM_001519.4(BRF1):c.1934A>G (p.Glu645Gly) rs967041522 0.00001
NM_001519.4(BRF1):c.1947G>T (p.Glu649Asp) rs754661662 0.00001
NM_001519.4(BRF1):c.413T>C (p.Leu138Pro) rs781256116 0.00001
NM_001519.4(BRF1):c.647G>A (p.Arg216Gln) rs757115243 0.00001
NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) rs1343140353 0.00001
NM_001519.4(BRF1):c.664G>A (p.Gly222Ser) rs960682350 0.00001
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) rs606231416 0.00001
NM_001519.4(BRF1):c.728G>A (p.Arg243Lys) rs587707880 0.00001
NM_001519.4(BRF1):c.781C>T (p.Arg261Trp) rs781426397 0.00001
NM_001519.4(BRF1):c.904C>T (p.Arg302Trp) rs757290383 0.00001
NM_001519.4(BRF1):c.1015G>A (p.Ala339Thr) rs1417478023
NM_001519.4(BRF1):c.1025G>T (p.Gly342Val) rs767342305
NM_001519.4(BRF1):c.1117G>A (p.Ala373Thr) rs142641074
NM_001519.4(BRF1):c.1117G>T (p.Ala373Ser) rs142641074
NM_001519.4(BRF1):c.1118C>T (p.Ala373Val)
NM_001519.4(BRF1):c.1153C>T (p.Leu385Phe)
NM_001519.4(BRF1):c.1178C>T (p.Ser393Leu) rs368792547
NM_001519.4(BRF1):c.1303A>T (p.Ser435Cys) rs2543219938
NM_001519.4(BRF1):c.1309G>A (p.Asp437Asn) rs373313979
NM_001519.4(BRF1):c.1321G>A (p.Ala441Thr) rs2543194635
NM_001519.4(BRF1):c.1327G>C (p.Gly443Arg) rs2543194526
NM_001519.4(BRF1):c.1402C>T (p.Arg468Cys) rs777982660
NM_001519.4(BRF1):c.1440G>T (p.Glu480Asp)
NM_001519.4(BRF1):c.1451A>G (p.Glu484Gly)
NM_001519.4(BRF1):c.1478C>T (p.Ala493Val)
NM_001519.4(BRF1):c.1496G>A (p.Gly499Asp)
NM_001519.4(BRF1):c.151T>C (p.Ser51Pro)
NM_001519.4(BRF1):c.1520A>G (p.Lys507Arg)
NM_001519.4(BRF1):c.1588G>C (p.Glu530Gln) rs2543145653
NM_001519.4(BRF1):c.158C>T (p.Ala53Val)
NM_001519.4(BRF1):c.1648G>C (p.Gly550Arg)
NM_001519.4(BRF1):c.1649del (p.Gly550fs) rs1178247951
NM_001519.4(BRF1):c.1661C>G (p.Pro554Arg)
NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly) rs770411283
NM_001519.4(BRF1):c.1729G>C (p.Ala577Pro) rs2543142010
NM_001519.4(BRF1):c.1760G>T (p.Ser587Ile) rs370288579
NM_001519.4(BRF1):c.1798C>T (p.Pro600Ser)
NM_001519.4(BRF1):c.1875G>C (p.Gln625His)
NM_001519.4(BRF1):c.1915G>A (p.Asp639Asn)
NM_001519.4(BRF1):c.1917C>G (p.Asp639Glu) rs199836794
NM_001519.4(BRF1):c.2003G>A (p.Gly668Asp)
NM_001519.4(BRF1):c.2005T>C (p.Cys669Arg) rs1296074428
NM_001519.4(BRF1):c.23G>A (p.Gly8Asp)
NM_001519.4(BRF1):c.385G>T (p.Ala129Ser)
NM_001519.4(BRF1):c.445C>A (p.Leu149Ile) rs762517054
NM_001519.4(BRF1):c.484G>A (p.Val162Met)
NM_001519.4(BRF1):c.536C>T (p.Pro179Leu)
NM_001519.4(BRF1):c.566G>T (p.Arg189Leu) rs777141032
NM_001519.4(BRF1):c.628C>T (p.Leu210Phe) rs1198030611
NM_001519.4(BRF1):c.638G>A (p.Arg213Lys) rs368844889
NM_001519.4(BRF1):c.639G>T (p.Arg213Ser)
NM_001519.4(BRF1):c.665G>C (p.Gly222Ala) rs757925995
NM_001519.4(BRF1):c.734C>G (p.Thr245Ser)
NM_001519.4(BRF1):c.766T>C (p.Cys256Arg) rs760166609
NM_001519.4(BRF1):c.782G>A (p.Arg261Gln) rs151290358
NM_001519.4(BRF1):c.794_795insTTTA (p.Glu266fs) rs2543306507
NM_001519.4(BRF1):c.849C>G (p.Ile283Met) rs587663572
NM_001519.4(BRF1):c.863A>G (p.Glu288Gly) rs1277340098
NM_001519.4(BRF1):c.875C>T (p.Pro292Leu) rs606231450
NM_001519.4(BRF1):c.878C>G (p.Ser293Trp) rs773768880

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