ClinVar Miner

List of variants in gene BRWD3 studied for Inborn genetic diseases

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Gene type:
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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00664
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_153252.5(BRWD3):c.2729G>C (p.Gly910Ala) rs150004766 0.00389
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) rs34984796 0.00332
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00165
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_153252.5(BRWD3):c.2346T>C (p.Cys782=) rs183513696 0.00033
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) rs200751676 0.00031
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_153252.5(BRWD3):c.3837C>T (p.Asp1279=) rs148556531 0.00013
NM_153252.5(BRWD3):c.14C>G (p.Pro5Arg) rs773723606 0.00012
NM_153252.5(BRWD3):c.2502C>T (p.Asp834=) rs148875743 0.00011
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) rs140203774 0.00011
NM_153252.5(BRWD3):c.2542A>G (p.Ser848Gly) rs149688283 0.00009
NM_153252.5(BRWD3):c.3578G>A (p.Arg1193Gln) rs754078647 0.00007
NM_153252.5(BRWD3):c.3936A>G (p.Leu1312=) rs139037875 0.00007
NM_153252.5(BRWD3):c.4546G>C (p.Asp1516His) rs768309390 0.00007
NM_153252.5(BRWD3):c.3875G>A (p.Arg1292Gln) rs149370074 0.00006
NM_153252.5(BRWD3):c.492A>G (p.Ser164=) rs761355398 0.00006
NM_153252.5(BRWD3):c.4088A>G (p.Gln1363Arg) rs143824970 0.00004
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr) rs767555361 0.00004
NM_153252.5(BRWD3):c.2378G>A (p.Arg793His) rs372559820 0.00003
NM_153252.5(BRWD3):c.4253G>A (p.Arg1418Gln) rs1401711800 0.00003
NM_153252.5(BRWD3):c.4345A>G (p.Arg1449Gly) rs762860736 0.00003
NM_153252.5(BRWD3):c.4573G>A (p.Gly1525Ser) rs771173711 0.00003
NM_153252.5(BRWD3):c.4872C>T (p.Asp1624=) rs751798037 0.00003
NM_153252.5(BRWD3):c.5297A>T (p.Asp1766Val) rs199676970 0.00003
NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His) rs779094763 0.00002
NM_153252.5(BRWD3):c.3596T>A (p.Phe1199Tyr) rs1369714193 0.00002
NM_153252.5(BRWD3):c.409T>A (p.Tyr137Asn) rs764393508 0.00002
NM_153252.5(BRWD3):c.814-4T>A rs749366665 0.00002
NM_153252.5(BRWD3):c.1233C>T (p.Gly411=) rs1405544151 0.00001
NM_153252.5(BRWD3):c.1490G>A (p.Arg497Gln) rs759433345 0.00001
NM_153252.5(BRWD3):c.1663A>G (p.Met555Val) rs777873861 0.00001
NM_153252.5(BRWD3):c.1834A>G (p.Lys612Glu) rs1602351987 0.00001
NM_153252.5(BRWD3):c.1962G>A (p.Leu654=) rs1234088480 0.00001
NM_153252.5(BRWD3):c.2183C>T (p.Ala728Val) rs761941078 0.00001
NM_153252.5(BRWD3):c.2232-3T>C rs2073072822 0.00001
NM_153252.5(BRWD3):c.2300A>C (p.Lys767Thr) rs776958729 0.00001
NM_153252.5(BRWD3):c.2479G>T (p.Asp827Tyr) rs749411347 0.00001
NM_153252.5(BRWD3):c.392C>T (p.Pro131Leu) rs1361042711 0.00001
NM_153252.5(BRWD3):c.4235T>C (p.Ile1412Thr) rs746697088 0.00001
NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr) rs1569244634 0.00001
NM_153252.5(BRWD3):c.436A>G (p.Ile146Val) rs758672244 0.00001
NM_153252.5(BRWD3):c.473T>C (p.Phe158Ser) rs1189770333 0.00001
NM_153252.5(BRWD3):c.763G>A (p.Ala255Thr) rs2520537209 0.00001
NM_153252.5(BRWD3):c.1086G>A (p.Thr362=) rs2073371620
NM_153252.5(BRWD3):c.1227G>A (p.Met409Ile) rs1418400050
NM_153252.5(BRWD3):c.1490G>C (p.Arg497Pro)
NM_153252.5(BRWD3):c.1506G>T (p.Arg502=) rs776521839
NM_153252.5(BRWD3):c.1761A>G (p.Pro587=) rs1569261058
NM_153252.5(BRWD3):c.1943A>T (p.Asp648Val) rs1306722788
NM_153252.5(BRWD3):c.2009A>G (p.His670Arg)
NM_153252.5(BRWD3):c.2251A>G (p.Thr751Ala)
NM_153252.5(BRWD3):c.225T>C (p.Ile75=) rs1406742927
NM_153252.5(BRWD3):c.2311T>C (p.Tyr771His) rs2073071962
NM_153252.5(BRWD3):c.2339C>A (p.Pro780His) rs759662872
NM_153252.5(BRWD3):c.2464A>G (p.Ser822Gly) rs2520282318
NM_153252.5(BRWD3):c.2535A>T (p.Gln845His) rs145526845
NM_153252.5(BRWD3):c.2696A>G (p.Lys899Arg)
NM_153252.5(BRWD3):c.2698A>G (p.Lys900Glu) rs2520270307
NM_153252.5(BRWD3):c.3007T>G (p.Leu1003Val) rs2520250559
NM_153252.5(BRWD3):c.3082C>G (p.Pro1028Ala)
NM_153252.5(BRWD3):c.309G>C (p.Gln103His) rs762867809
NM_153252.5(BRWD3):c.3358C>T (p.Pro1120Ser)
NM_153252.5(BRWD3):c.335G>A (p.Cys112Tyr)
NM_153252.5(BRWD3):c.3445C>T (p.Arg1149Trp) rs2520237015
NM_153252.5(BRWD3):c.3607A>T (p.Ile1203Leu) rs201773230
NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val) rs2072589400
NM_153252.5(BRWD3):c.3731A>G (p.Asp1244Gly)
NM_153252.5(BRWD3):c.381A>G (p.Arg127=) rs1569289747
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) rs2072535700
NM_153252.5(BRWD3):c.4000T>G (p.Tyr1334Asp)
NM_153252.5(BRWD3):c.4006-8C>T rs2072509272
NM_153252.5(BRWD3):c.4102A>T (p.Thr1368Ser) rs2520215850
NM_153252.5(BRWD3):c.4123G>A (p.Val1375Met) rs2520215797
NM_153252.5(BRWD3):c.413T>C (p.Val138Ala)
NM_153252.5(BRWD3):c.4168T>C (p.Phe1390Leu)
NM_153252.5(BRWD3):c.4234A>C (p.Ile1412Leu) rs770450843
NM_153252.5(BRWD3):c.4234A>G (p.Ile1412Val)
NM_153252.5(BRWD3):c.4370G>A (p.Ser1457Asn)
NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter) rs2520208301
NM_153252.5(BRWD3):c.4586G>A (p.Arg1529Gln) rs778419234
NM_153252.5(BRWD3):c.4651C>G (p.Gln1551Glu) rs1209727081
NM_153252.5(BRWD3):c.4791G>T (p.Glu1597Asp) rs2520199820
NM_153252.5(BRWD3):c.4969C>A (p.Gln1657Lys)
NM_153252.5(BRWD3):c.560C>G (p.Ala187Gly)
NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter) rs2520537460
NM_153252.5(BRWD3):c.814-4del rs751020595
NM_153252.5(BRWD3):c.915A>G (p.Arg305=) rs142210787

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