ClinVar Miner

List of variants in gene NBEA studied for Neurodevelopmental disorder with or without early-onset generalized epilepsy

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001385012.1(NBEA):c.5985G>A (p.Glu1995=) rs151318906 0.00782
NM_001385012.1(NBEA):c.5081G>A (p.Ser1694Asn) rs73505630 0.00672
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe) rs41292207 0.00283
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 0.00234
NM_001385012.1(NBEA):c.6743A>G (p.Lys2248Arg) rs757249160 0.00012
NM_001385012.1(NBEA):c.2618T>C (p.Ile873Thr) rs371818788 0.00010
NM_001385012.1(NBEA):c.3770C>T (p.Ala1257Val) rs201399155 0.00008
NM_001385012.1(NBEA):c.8542C>T (p.Arg2848Cys) rs200699050 0.00008
NM_001385012.1(NBEA):c.6248G>A (p.Arg2083His) rs201478045 0.00007
NM_001385012.1(NBEA):c.4631A>G (p.Asn1544Ser) rs201692550 0.00005
NM_001385012.1(NBEA):c.3008T>C (p.Ile1003Thr) rs534046290 0.00003
NM_001385012.1(NBEA):c.3239C>G (p.Thr1080Ser) rs764556537 0.00003
NM_001385012.1(NBEA):c.3616A>G (p.Lys1206Glu) rs771383700 0.00003
NM_001385012.1(NBEA):c.1615G>T (p.Val539Leu) rs924307212 0.00002
NM_001385012.1(NBEA):c.14A>G (p.Lys5Arg) rs1165734499 0.00001
NM_001385012.1(NBEA):c.1832A>G (p.Lys611Arg) rs767636645 0.00001
NM_001385012.1(NBEA):c.3341G>C (p.Ser1114Thr) rs547907440 0.00001
NM_001385012.1(NBEA):c.3421A>G (p.Asn1141Asp) rs1192689106 0.00001
NM_001385012.1(NBEA):c.3607A>G (p.Ile1203Val) rs747445534 0.00001
NM_001385012.1(NBEA):c.4024C>T (p.Arg1342Trp) rs752210726 0.00001
NM_001385012.1(NBEA):c.4802G>A (p.Arg1601Lys) rs1368758552 0.00001
NM_001385012.1(NBEA):c.4904G>A (p.Ser1635Asn) rs766298140 0.00001
NM_001385012.1(NBEA):c.5257G>A (p.Ala1753Thr) rs1315495138 0.00001
NM_001385012.1(NBEA):c.7201A>G (p.Asn2401Asp) rs2081620949 0.00001
NM_001385012.1(NBEA):c.7225C>G (p.His2409Asp) rs757742962 0.00001
NM_001385012.1(NBEA):c.7541C>T (p.Ala2514Val) rs2083305484 0.00001
NM_001385012.1(NBEA):c.8365G>A (p.Asp2789Asn) rs374328478 0.00001
NM_001385012.1(NBEA):c.850C>T (p.Arg284Cys) rs1190989650 0.00001
NM_001385012.1(NBEA):c.8760T>G (p.Ile2920Met) rs763083629 0.00001
NM_001385012.1(NBEA):c.968G>A (p.Arg323His) rs2502320106 0.00001
NM_001385012.1(NBEA):c.1006C>T (p.Arg336Ter) rs1275520648
NM_001385012.1(NBEA):c.1092T>A (p.Asp364Glu) rs775602339
NM_001385012.1(NBEA):c.163A>G (p.Met55Val)
NM_001385012.1(NBEA):c.1643G>C (p.Gly548Ala)
NM_001385012.1(NBEA):c.16C>T (p.Pro6Ser) rs2059070228
NM_001385012.1(NBEA):c.1747G>A (p.Gly583Ser) rs774874223
NM_001385012.1(NBEA):c.1750T>A (p.Leu584Ile) rs2503042303
NM_001385012.1(NBEA):c.1808C>T (p.Ala603Val) rs2503043108
NM_001385012.1(NBEA):c.1954T>C (p.Trp652Arg)
NM_001385012.1(NBEA):c.1990C>A (p.Pro664Thr) rs1421709090
NM_001385012.1(NBEA):c.2070G>T (p.Gln690His) rs2503132328
NM_001385012.1(NBEA):c.2086C>T (p.Arg696Ter) rs1296627050
NM_001385012.1(NBEA):c.2103T>A (p.Asp701Glu) rs2066607742
NM_001385012.1(NBEA):c.2208_2210del (p.Met737del)
NM_001385012.1(NBEA):c.2578G>T (p.Glu860Ter) rs2503578399
NM_001385012.1(NBEA):c.2657T>A (p.Leu886Ter) rs2503592299
NM_001385012.1(NBEA):c.2743A>C (p.Met915Leu) rs2152709075
NM_001385012.1(NBEA):c.2746G>T (p.Val916Phe) rs2503593702
NM_001385012.1(NBEA):c.2784A>G (p.Ile928Met)
NM_001385012.1(NBEA):c.2864A>G (p.Lys955Arg) rs2503621287
NM_001385012.1(NBEA):c.2924A>G (p.Lys975Arg) rs2503622228
NM_001385012.1(NBEA):c.3001C>T (p.Arg1001Ter) rs779764549
NM_001385012.1(NBEA):c.3047C>A (p.Thr1016Asn) rs1429465146
NM_001385012.1(NBEA):c.3052T>G (p.Tyr1018Asp) rs771005605
NM_001385012.1(NBEA):c.3092C>A (p.Thr1031Lys)
NM_001385012.1(NBEA):c.3272A>C (p.Glu1091Ala)
NM_001385012.1(NBEA):c.3362del (p.Asn1121fs) rs763376147
NM_001385012.1(NBEA):c.3362dup (p.Asn1121fs) rs763376147
NM_001385012.1(NBEA):c.3469A>G (p.Lys1157Glu) rs2503633252
NM_001385012.1(NBEA):c.3491G>A (p.Ser1164Asn) rs2503633846
NM_001385012.1(NBEA):c.358T>A (p.Cys120Ser) rs2502184145
NM_001385012.1(NBEA):c.3643G>T (p.Asp1215Tyr)
NM_001385012.1(NBEA):c.3733G>T (p.Glu1245Ter) rs2503639083
NM_001385012.1(NBEA):c.3806del (p.Asp1269fs) rs2503640330
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu) rs2069582666
NM_001385012.1(NBEA):c.38A>C (p.Glu13Ala) rs2500552501
NM_001385012.1(NBEA):c.3911dup (p.Asp1304fs) rs2503665263
NM_001385012.1(NBEA):c.3949C>T (p.Arg1317Ter)
NM_001385012.1(NBEA):c.3994C>T (p.Pro1332Ser) rs2069590640
NM_001385012.1(NBEA):c.4080-2A>C
NM_001385012.1(NBEA):c.411G>A (p.Trp137Ter) rs2502185013
NM_001385012.1(NBEA):c.4367T>C (p.Ile1456Thr) rs911451865
NM_001385012.1(NBEA):c.4406G>A (p.Arg1469Gln) rs2070454395
NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs) rs2070635297
NM_001385012.1(NBEA):c.4484del (p.Asn1495fs)
NM_001385012.1(NBEA):c.467A>C (p.Glu156Ala)
NM_001385012.1(NBEA):c.4688T>C (p.Leu1563Ser)
NM_001385012.1(NBEA):c.4715C>A (p.Ser1572Ter) rs1265307831
NM_001385012.1(NBEA):c.4796A>G (p.Asn1599Ser) rs2152730933
NM_001385012.1(NBEA):c.4936G>A (p.Ala1646Thr)
NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val) rs1273803183
NM_001385012.1(NBEA):c.5285C>T (p.Pro1762Leu) rs1385855969
NM_001385012.1(NBEA):c.5521+4T>G rs1773925539
NM_001385012.1(NBEA):c.5648+1G>A rs2073745817
NM_001385012.1(NBEA):c.5755G>T (p.Gly1919Ter)
NM_001385012.1(NBEA):c.5782G>A (p.Val1928Ile) rs2549268527
NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg) rs1594162606
NM_001385012.1(NBEA):c.5904-2A>G
NM_001385012.1(NBEA):c.6013-1G>A
NM_001385012.1(NBEA):c.6117dup (p.Lys2040fs) rs2549400895
NM_001385012.1(NBEA):c.6118A>G (p.Lys2040Glu) rs2549400900
NM_001385012.1(NBEA):c.6166G>A (p.Ala2056Thr) rs1238696063
NM_001385012.1(NBEA):c.616A>G (p.Ser206Gly) rs776942249
NM_001385012.1(NBEA):c.6304+5G>T rs2152930968
NM_001385012.1(NBEA):c.6313G>T (p.Glu2105Ter) rs910146888
NM_001385012.1(NBEA):c.6554A>G (p.Asp2185Gly) rs2549588320
NM_001385012.1(NBEA):c.6707del (p.Thr2235_Ser2236insTer) rs2549714620
NM_001385012.1(NBEA):c.6829C>T (p.Arg2277Ter) rs2079516243
NM_001385012.1(NBEA):c.6841A>G (p.Lys2281Glu) rs2549722782
NM_001385012.1(NBEA):c.7118A>C (p.Tyr2373Ser) rs2081175229
NM_001385012.1(NBEA):c.7252G>A (p.Ala2418Thr) rs2549816975
NM_001385012.1(NBEA):c.7348G>A (p.Gly2450Arg)
NM_001385012.1(NBEA):c.7494C>G (p.Ile2498Met) rs745924046
NM_001385012.1(NBEA):c.7502T>C (p.Ile2501Thr) rs1174437634
NM_001385012.1(NBEA):c.7519C>T (p.Arg2507Ter) rs2549940466
NM_001385012.1(NBEA):c.7568A>T (p.Tyr2523Phe) rs1055550398
NM_001385012.1(NBEA):c.7694A>G (p.Gln2565Arg) rs2549993553
NM_001385012.1(NBEA):c.7744C>T (p.Pro2582Ser)
NM_001385012.1(NBEA):c.7928G>A (p.Arg2643Gln)
NM_001385012.1(NBEA):c.8011C>T (p.Pro2671Ser) rs2550000574
NM_001385012.1(NBEA):c.8141T>C (p.Leu2714Pro)
NM_001385012.1(NBEA):c.8168T>G (p.Phe2723Cys) rs868380638
NM_001385012.1(NBEA):c.8321G>A (p.Trp2774Ter) rs2550006957
NM_001385012.1(NBEA):c.8358C>A (p.Asn2786Lys) rs2153082078
NM_001385012.1(NBEA):c.8464G>A (p.Glu2822Lys) rs2085290856
NM_001385012.1(NBEA):c.8467G>A (p.Gly2823Ser) rs2550044213
NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter) rs1288199769
NM_001385012.1(NBEA):c.8657C>T (p.Thr2886Ile) rs2550045001
NM_001385012.1(NBEA):c.8660G>A (p.Arg2887Gln) rs758639954
NM_001385012.1(NBEA):c.8662-1G>A rs2550047589
NM_001385012.1(NBEA):c.8711A>G (p.Asn2904Ser) rs1242778169
NM_001385012.1(NBEA):c.8864A>G (p.Asp2955Gly)
NM_001385012.1(NBEA):c.95_96delinsAT (p.Ser32Asn) rs2500554387

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