ClinVar Miner

List of variants reported as benign for neonatal-onset encephalopathy with rigidity and seizures by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.128-10A>G rs2164688 0.46043
NM_152743.4(BRAT1):c.2388A>G (p.Glu796=) rs1043291 0.45840
NM_152743.4(BRAT1):c.1932A>G (p.Arg644=) rs4719552 0.45541
NM_152743.4(BRAT1):c.699G>A (p.Thr233=) rs61753095 0.15251
NM_152743.4(BRAT1):c.430+20A>G rs34720091 0.12399
NM_152743.4(BRAT1):c.1931G>A (p.Arg644Gln) rs4719553 0.12363
NM_152743.4(BRAT1):c.1321+18G>A rs62442586 0.12338
NM_152743.4(BRAT1):c.1923G>A (p.Ala641=) rs2917726 0.04425
NM_152743.4(BRAT1):c.1988G>A (p.Gly663Asp) rs61627394 0.04216
NM_152743.4(BRAT1):c.1798C>T (p.Leu600Phe) rs56727079 0.03653
NM_152743.4(BRAT1):c.2209C>T (p.Arg737Trp) rs60152725 0.02491
NM_152743.4(BRAT1):c.854G>A (p.Arg285Gln) rs77213198 0.02022
NM_152743.4(BRAT1):c.924-14G>A rs113638677 0.02010
NM_152743.4(BRAT1):c.1636G>T (p.Val546Leu) rs34656552 0.01960
NM_152743.4(BRAT1):c.1206C>T (p.Asp402=) rs7807895 0.01413
NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser) rs61740320 0.01143
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.01031
NM_152743.4(BRAT1):c.924-13C>T rs73287544 0.00979
NM_152743.4(BRAT1):c.1135-8C>A rs113613637 0.00936
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_152743.4(BRAT1):c.993G>A (p.Thr331=) rs76646873 0.00653
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_152743.4(BRAT1):c.803+11C>T rs150359205 0.00551
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_152743.4(BRAT1):c.1689G>A (p.Ala563=) rs146276208 0.00310
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=) rs61746940 0.00205
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616 0.00198
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 0.00159
NM_152743.4(BRAT1):c.1770+13A>G rs368492447 0.00135
NM_152743.4(BRAT1):c.1579C>T (p.Leu527=) rs151161353 0.00126
NM_152743.4(BRAT1):c.282+9G>A rs192133446 0.00099
NM_152743.4(BRAT1):c.1322-12C>T rs200963118 0.00093
NM_152743.4(BRAT1):c.825C>T (p.Ser275=) rs141320181 0.00067
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp) rs199745325 0.00036
NM_152743.4(BRAT1):c.127+15C>G rs543145292 0.00033
NM_152743.4(BRAT1):c.1701C>T (p.Thr567=) rs199766692 0.00016
NM_152743.4(BRAT1):c.762C>T (p.Pro254=) rs143192367 0.00014
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176 0.00008
NM_152743.4(BRAT1):c.1598-20G>A rs141753173 0.00008
NM_152743.4(BRAT1):c.1740C>T (p.Pro580=) rs200084998 0.00006
NM_152743.4(BRAT1):c.2250C>T (p.Ala750=) rs543555790 0.00006
NM_152743.4(BRAT1):c.1499-8C>T rs370879134 0.00003
NM_152743.4(BRAT1):c.2052A>G (p.Pro684=) rs775271322 0.00003
NM_152743.4(BRAT1):c.560C>G (p.Pro187Arg) rs551655837 0.00002
NM_152743.4(BRAT1):c.1134+14G>A rs372235478
NM_152743.4(BRAT1):c.1233G>A (p.Val411=) rs556970046
NM_152743.4(BRAT1):c.1305G>T (p.Thr435=) rs145506790
NM_152743.4(BRAT1):c.166G>A (p.Val56Met) rs148548421
NM_152743.4(BRAT1):c.1931_1932delinsAG (p.Arg644Gln) rs71531463
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=) rs150300694
NM_152743.4(BRAT1):c.283-10del rs759971408
NM_152743.4(BRAT1):c.566G>T (p.Gly189Val) rs531827528

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