ClinVar Miner

List of variants in gene BRAT1 reported as pathogenic by Invitae

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_152743.4(BRAT1):c.617T>A (p.Leu206Ter) rs762469913 0.00004
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) rs759216914 0.00003
NM_152743.4(BRAT1):c.1395G>A (p.Thr465=) rs201855243 0.00002
NM_152743.4(BRAT1):c.1590del (p.Trp531fs) rs755075934 0.00001
NM_152743.4(BRAT1):c.34del (p.Leu12fs) rs1780257580 0.00001
NC_000007.13:g.(?_2578125)_(2579037_?)del
NC_000007.13:g.(?_2584533)_(2594065_?)del
NC_000007.13:g.(?_2586938)_(2594065_?)del
NC_000007.14:g.(?_2538049)_(2539371_?)del
NC_000007.14:g.(?_2544889)_(2554451_?)del
NC_000007.14:g.(?_2554285)_(2554451_?)del
NM_152743.4(BRAT1):c.1007del (p.Gly336fs) rs2128393384
NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) rs754341393
NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) rs1562596651
NM_152743.4(BRAT1):c.1083_1095del (p.Gly363fs) rs1188555703
NM_152743.4(BRAT1):c.1123del (p.Leu375fs)
NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer) rs773772842
NM_152743.4(BRAT1):c.1248_1249del (p.Cys416fs)
NM_152743.4(BRAT1):c.1297del (p.Leu433fs)
NM_152743.4(BRAT1):c.1414C>T (p.Gln472Ter)
NM_152743.4(BRAT1):c.1446del (p.Lys483fs)
NM_152743.4(BRAT1):c.1461C>A (p.Cys487Ter)
NM_152743.4(BRAT1):c.1486C>T (p.Gln496Ter)
NM_152743.4(BRAT1):c.1492del (p.Leu498fs) rs1779001773
NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) rs1554293869
NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter) rs1778980785
NM_152743.4(BRAT1):c.1711C>T (p.Gln571Ter) rs1562567814
NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter) rs746081291
NM_152743.4(BRAT1):c.1779_1780del (p.Leu594fs)
NM_152743.4(BRAT1):c.1780del (p.Leu594fs)
NM_152743.4(BRAT1):c.1823del (p.Pro608fs) rs1778893542
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) rs794729222
NM_152743.4(BRAT1):c.1996_1997del (p.Leu666fs) rs1335347265
NM_152743.4(BRAT1):c.19C>T (p.Gln7Ter)
NM_152743.4(BRAT1):c.1A>G (p.Met1Val)
NM_152743.4(BRAT1):c.2023del (p.Tyr675fs) rs2128384059
NM_152743.4(BRAT1):c.2035_2036dup (p.Pro680fs)
NM_152743.4(BRAT1):c.2075_2091del (p.Leu692fs)
NM_152743.4(BRAT1):c.2104_2107dup (p.Phe703Ter)
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.2284C>T (p.Gln762Ter) rs1778838576
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs) rs1463777746
NM_152743.4(BRAT1):c.280C>T (p.Gln94Ter)
NM_152743.4(BRAT1):c.313G>T (p.Glu105Ter)
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152743.4(BRAT1):c.398_405del (p.His133fs) rs760389988
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) rs727505362
NM_152743.4(BRAT1):c.529C>T (p.Arg177Ter)
NM_152743.4(BRAT1):c.560_561insCG (p.Asp190fs)
NM_152743.4(BRAT1):c.566dup (p.Gly189_Asp190insTer)
NM_152743.4(BRAT1):c.586C>T (p.Gln196Ter)
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.920del (p.His307fs) rs2128395588

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