ClinVar Miner

List of variants in gene BRAT1 reported as pathogenic

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Gene type:
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Total variants: 38
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HGVS dbSNP
NC_000007.13:g.(?_2584533)_(2594065_?)del
NC_000007.14:g.(?_2538049)_(2539371_?)del
NC_000007.14:g.(?_2544889)_(2554451_?)del
NC_000007.14:g.(?_2554285)_(2554451_?)del
NC_000007.14:g.(?_2554305)_(2554431_?)del
NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) rs754341393
NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) rs1562596651
NM_152743.4(BRAT1):c.1177del (p.Ala393fs) rs727505365
NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer) rs773772842
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175
NM_152743.4(BRAT1):c.1492del (p.Leu498fs)
NM_152743.4(BRAT1):c.1499-1G>T
NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) rs1554293869
NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter)
NM_152743.4(BRAT1):c.1654C>T (p.Gln552Ter)
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) rs759216914
NM_152743.4(BRAT1):c.171del (p.Glu57fs) rs1554297097
NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter)
NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) rs727505363
NM_152743.4(BRAT1):c.1771-1G>A rs1064796877
NM_152743.4(BRAT1):c.1823del (p.Pro608fs)
NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp) rs886039312
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) rs794729222
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu) rs200502048
NM_152743.4(BRAT1):c.2023del (p.Tyr675fs)
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_152743.4(BRAT1):c.398_405del (p.His133fs)
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) rs1085307958
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)
NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) rs1554296088
NM_152743.4(BRAT1):c.617T>A (p.Leu206Ter)
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.803+1G>C rs869312931
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_152743.4(BRAT1):c.962_963del (p.Leu321fs) rs727505364
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) rs1554295159

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