ClinVar Miner

List of variants in gene NBEA reported as uncertain significance for Inborn genetic diseases

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001385012.1(NBEA):c.6743A>G (p.Lys2248Arg) rs757249160 0.00012
NM_001385012.1(NBEA):c.5308C>G (p.Pro1770Ala) rs756773268 0.00006
NM_001385012.1(NBEA):c.2573G>C (p.Ser858Thr) rs966742874 0.00005
NM_001385012.1(NBEA):c.6187C>T (p.His2063Tyr) rs369339201 0.00005
NM_001385012.1(NBEA):c.4329T>G (p.Asp1443Glu) rs752662674 0.00004
NM_001385012.1(NBEA):c.1573G>T (p.Ala525Ser) rs746174686 0.00003
NM_001385012.1(NBEA):c.1939T>A (p.Leu647Ile) rs746487804 0.00003
NM_001385012.1(NBEA):c.3831C>G (p.Ile1277Met) rs975322253 0.00003
NM_001385012.1(NBEA):c.3923G>A (p.Arg1308Gln) rs374723903 0.00003
NM_001385012.1(NBEA):c.4448G>C (p.Cys1483Ser) rs748951853 0.00003
NM_001385012.1(NBEA):c.6734C>A (p.Ala2245Glu) rs368464296 0.00003
NM_001385012.1(NBEA):c.446G>A (p.Arg149Gln) rs983917648 0.00002
NM_001385012.1(NBEA):c.47C>T (p.Pro16Leu) rs1387680840 0.00002
NM_001385012.1(NBEA):c.628-6C>G rs769963205 0.00002
NM_001385012.1(NBEA):c.1727C>A (p.Ser576Tyr) rs1420246722 0.00001
NM_001385012.1(NBEA):c.2401C>T (p.His801Tyr) rs374696198 0.00001
NM_001385012.1(NBEA):c.2476G>A (p.Val826Ile) rs373518301 0.00001
NM_001385012.1(NBEA):c.2913A>C (p.Glu971Asp) rs1420220510 0.00001
NM_001385012.1(NBEA):c.3250G>A (p.Gly1084Arg) rs1392060462 0.00001
NM_001385012.1(NBEA):c.3275T>C (p.Val1092Ala) rs187172790 0.00001
NM_001385012.1(NBEA):c.3421A>G (p.Asn1141Asp) rs1192689106 0.00001
NM_001385012.1(NBEA):c.3548A>G (p.Asp1183Gly) rs1054885736 0.00001
NM_001385012.1(NBEA):c.3568A>G (p.Met1190Val) rs2069424343 0.00001
NM_001385012.1(NBEA):c.3754G>A (p.Val1252Ile) rs957955107 0.00001
NM_001385012.1(NBEA):c.3934A>G (p.Met1312Val) rs745847639 0.00001
NM_001385012.1(NBEA):c.4472G>C (p.Arg1491Thr) rs1175371425 0.00001
NM_001385012.1(NBEA):c.4601C>T (p.Pro1534Leu) rs773958544 0.00001
NM_001385012.1(NBEA):c.6139C>T (p.Leu2047Phe) rs1192678223 0.00001
NM_001385012.1(NBEA):c.6715T>C (p.Phe2239Leu) rs375875207 0.00001
NM_001385012.1(NBEA):c.7225C>G (p.His2409Asp) rs757742962 0.00001
NM_001385012.1(NBEA):c.7265G>A (p.Arg2422Lys) rs1001379233 0.00001
NM_001385012.1(NBEA):c.8113G>T (p.Val2705Leu) rs745730425 0.00001
NM_001385012.1(NBEA):c.8365G>A (p.Asp2789Asn) rs374328478 0.00001
NM_001385012.1(NBEA):c.106G>A (p.Gly36Ser)
NM_001385012.1(NBEA):c.116G>A (p.Gly39Asp) rs1405675802
NM_001385012.1(NBEA):c.118A>C (p.Ser40Arg) rs765235867
NM_001385012.1(NBEA):c.119G>C (p.Ser40Thr) rs752789102
NM_001385012.1(NBEA):c.126G>C (p.Met42Ile)
NM_001385012.1(NBEA):c.138G>T (p.Arg46Ser)
NM_001385012.1(NBEA):c.1451T>C (p.Ile484Thr) rs1181138337
NM_001385012.1(NBEA):c.1511C>T (p.Pro504Leu)
NM_001385012.1(NBEA):c.1535G>C (p.Arg512Thr)
NM_001385012.1(NBEA):c.1543A>G (p.Asn515Asp)
NM_001385012.1(NBEA):c.1564A>G (p.Thr522Ala)
NM_001385012.1(NBEA):c.1600C>G (p.Leu534Val)
NM_001385012.1(NBEA):c.1649G>T (p.Gly550Val)
NM_001385012.1(NBEA):c.1680+3A>G
NM_001385012.1(NBEA):c.1685C>T (p.Ser562Leu) rs2503041468
NM_001385012.1(NBEA):c.17C>A (p.Pro6Gln) rs747399320
NM_001385012.1(NBEA):c.1831A>G (p.Lys611Glu)
NM_001385012.1(NBEA):c.2118A>G (p.Ile706Met)
NM_001385012.1(NBEA):c.2179G>C (p.Val727Leu)
NM_001385012.1(NBEA):c.2279G>C (p.Ser760Thr)
NM_001385012.1(NBEA):c.2362C>T (p.His788Tyr)
NM_001385012.1(NBEA):c.2375C>T (p.Thr792Ile)
NM_001385012.1(NBEA):c.2702A>G (p.Tyr901Cys) rs1335616215
NM_001385012.1(NBEA):c.2734A>T (p.Ile912Phe)
NM_001385012.1(NBEA):c.2957G>A (p.Gly986Asp) rs2503622692
NM_001385012.1(NBEA):c.2975C>G (p.Thr992Arg) rs2069381767
NM_001385012.1(NBEA):c.3088T>C (p.Ser1030Pro) rs878942232
NM_001385012.1(NBEA):c.3157C>G (p.His1053Asp) rs2503626756
NM_001385012.1(NBEA):c.3221T>C (p.Met1074Thr) rs776620418
NM_001385012.1(NBEA):c.3277G>C (p.Glu1093Gln) rs2503628967
NM_001385012.1(NBEA):c.3279A>T (p.Glu1093Asp) rs368078565
NM_001385012.1(NBEA):c.3382C>T (p.Pro1128Ser)
NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala) rs2069410292
NM_001385012.1(NBEA):c.3397G>A (p.Ala1133Thr)
NM_001385012.1(NBEA):c.3512T>C (p.Ile1171Thr)
NM_001385012.1(NBEA):c.3626A>G (p.Lys1209Arg)
NM_001385012.1(NBEA):c.3686C>T (p.Thr1229Ile) rs2503638159
NM_001385012.1(NBEA):c.3862-1G>C rs2503663938
NM_001385012.1(NBEA):c.4039T>A (p.Leu1347Ile)
NM_001385012.1(NBEA):c.4183A>G (p.Ile1395Val) rs2503702466
NM_001385012.1(NBEA):c.422C>T (p.Thr141Ile)
NM_001385012.1(NBEA):c.4298C>G (p.Thr1433Ser)
NM_001385012.1(NBEA):c.4507A>G (p.Lys1503Glu)
NM_001385012.1(NBEA):c.4654C>T (p.Arg1552Trp)
NM_001385012.1(NBEA):c.4660G>A (p.Val1554Met)
NM_001385012.1(NBEA):c.4855C>T (p.His1619Tyr) rs2504006462
NM_001385012.1(NBEA):c.4982G>A (p.Gly1661Asp)
NM_001385012.1(NBEA):c.5008A>G (p.Ile1670Val) rs1273803183
NM_001385012.1(NBEA):c.5264T>C (p.Val1755Ala)
NM_001385012.1(NBEA):c.5450T>G (p.Leu1817Arg)
NM_001385012.1(NBEA):c.5485A>G (p.Thr1829Ala) rs1025131836
NM_001385012.1(NBEA):c.5527G>A (p.Val1843Met)
NM_001385012.1(NBEA):c.5548T>C (p.Ser1850Pro)
NM_001385012.1(NBEA):c.565A>G (p.Ser189Gly)
NM_001385012.1(NBEA):c.569T>A (p.Ile190Asn) rs2502242621
NM_001385012.1(NBEA):c.5782G>A (p.Val1928Ile) rs2549268527
NM_001385012.1(NBEA):c.5876C>T (p.Ala1959Val)
NM_001385012.1(NBEA):c.58A>C (p.Ile20Leu)
NM_001385012.1(NBEA):c.598A>T (p.Ser200Cys) rs2502243131
NM_001385012.1(NBEA):c.6029A>G (p.Tyr2010Cys)
NM_001385012.1(NBEA):c.6051A>C (p.Glu2017Asp) rs1447934670
NM_001385012.1(NBEA):c.611G>A (p.Gly204Glu) rs1291748919
NM_001385012.1(NBEA):c.6167C>A (p.Ala2056Glu)
NM_001385012.1(NBEA):c.6386T>C (p.Met2129Thr)
NM_001385012.1(NBEA):c.6496G>A (p.Val2166Met) rs2075694249
NM_001385012.1(NBEA):c.6724C>G (p.Pro2242Ala) rs2153013060
NM_001385012.1(NBEA):c.6821C>T (p.Ala2274Val) rs2079515965
NM_001385012.1(NBEA):c.6830G>A (p.Arg2277Gln) rs758012879
NM_001385012.1(NBEA):c.6871A>G (p.Arg2291Gly) rs2549722826
NM_001385012.1(NBEA):c.6916A>G (p.Ile2306Val) rs2549722901
NM_001385012.1(NBEA):c.6977A>C (p.Asn2326Thr)
NM_001385012.1(NBEA):c.7104T>A (p.Asp2368Glu)
NM_001385012.1(NBEA):c.7117T>A (p.Tyr2373Asn)
NM_001385012.1(NBEA):c.7181C>T (p.Pro2394Leu)
NM_001385012.1(NBEA):c.7291G>A (p.Val2431Ile)
NM_001385012.1(NBEA):c.7391A>T (p.Asp2464Val) rs749004741
NM_001385012.1(NBEA):c.7549G>A (p.Val2517Ile)
NM_001385012.1(NBEA):c.7691C>T (p.Ala2564Val)
NM_001385012.1(NBEA):c.7803A>C (p.Lys2601Asn) rs2549997904
NM_001385012.1(NBEA):c.7810A>T (p.Met2604Leu)
NM_001385012.1(NBEA):c.7885C>T (p.Pro2629Ser)
NM_001385012.1(NBEA):c.7899C>G (p.Ile2633Met) rs1291459298
NM_001385012.1(NBEA):c.7958C>T (p.Thr2653Ile)
NM_001385012.1(NBEA):c.8087G>C (p.Ser2696Thr) rs2550005667
NM_001385012.1(NBEA):c.8324G>C (p.Ser2775Thr) rs2550006970
NM_001385012.1(NBEA):c.8521C>A (p.Pro2841Thr)
NM_001385012.1(NBEA):c.8637A>T (p.Gln2879His) rs753973059
NM_001385012.1(NBEA):c.8738G>C (p.Cys2913Ser)
NM_001385012.1(NBEA):c.89G>A (p.Gly30Glu)
NM_001385012.1(NBEA):c.988A>G (p.Ile330Val)

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