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: 63
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HGVS dbSNP gnomAD frequency
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00612
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 0.00171
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 0.00032
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) rs140203774 0.00011
NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His) rs779094763 0.00005
NM_153252.5(BRWD3):c.4088A>G (p.Gln1363Arg) rs143824970 0.00004
NM_153252.5(BRWD3):c.4345A>G (p.Arg1449Gly) rs762860736 0.00003
NM_153252.5(BRWD3):c.5297A>T (p.Asp1766Val) rs199676970 0.00003
NM_153252.5(BRWD3):c.1962G>A (p.Leu654=) rs1234088480 0.00001
NM_153252.5(BRWD3):c.2300A>C (p.Lys767Thr) rs776958729 0.00001
NM_153252.5(BRWD3):c.473T>C (p.Phe158Ser) rs1189770333 0.00001
NM_153252.5(BRWD3):c.1086G>A (p.Thr362=) rs2073371620
NM_153252.5(BRWD3):c.1227G>A (p.Met409Ile)
NM_153252.5(BRWD3):c.1233C>T (p.Gly411=)
NM_153252.5(BRWD3):c.1490G>A (p.Arg497Gln)
NM_153252.5(BRWD3):c.14C>G (p.Pro5Arg)
NM_153252.5(BRWD3):c.1506G>T (p.Arg502=)
NM_153252.5(BRWD3):c.1761A>G (p.Pro587=) rs1569261058
NM_153252.5(BRWD3):c.1943A>T (p.Asp648Val)
NM_153252.5(BRWD3):c.2183C>T (p.Ala728Val)
NM_153252.5(BRWD3):c.2232-3T>C
NM_153252.5(BRWD3):c.225T>C (p.Ile75=)
NM_153252.5(BRWD3):c.2479G>T (p.Asp827Tyr)
NM_153252.5(BRWD3):c.2502C>T (p.Asp834=)
NM_153252.5(BRWD3):c.2542A>G (p.Ser848Gly)
NM_153252.5(BRWD3):c.2698A>G (p.Lys900Glu)
NM_153252.5(BRWD3):c.3007T>G (p.Leu1003Val)
NM_153252.5(BRWD3):c.309G>C (p.Gln103His)
NM_153252.5(BRWD3):c.3445C>T (p.Arg1149Trp)
NM_153252.5(BRWD3):c.3578G>A (p.Arg1193Gln)
NM_153252.5(BRWD3):c.3596T>A (p.Phe1199Tyr)
NM_153252.5(BRWD3):c.3607A>T (p.Ile1203Leu)
NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)
NM_153252.5(BRWD3):c.381A>G (p.Arg127=) rs1569289747
NM_153252.5(BRWD3):c.3837C>T (p.Asp1279=)
NM_153252.5(BRWD3):c.3875G>A (p.Arg1292Gln)
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) rs2072535700
NM_153252.5(BRWD3):c.392C>T (p.Pro131Leu)
NM_153252.5(BRWD3):c.3936A>G (p.Leu1312=)
NM_153252.5(BRWD3):c.4006-8C>T
NM_153252.5(BRWD3):c.4102A>T (p.Thr1368Ser)
NM_153252.5(BRWD3):c.4123G>A (p.Val1375Met)
NM_153252.5(BRWD3):c.4234A>C (p.Ile1412Leu)
NM_153252.5(BRWD3):c.4253G>A (p.Arg1418Gln)
NM_153252.5(BRWD3):c.4546G>C (p.Asp1516His)
NM_153252.5(BRWD3):c.4573G>A (p.Gly1525Ser)
NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter)
NM_153252.5(BRWD3):c.4586G>A (p.Arg1529Gln)
NM_153252.5(BRWD3):c.4651C>G (p.Gln1551Glu)
NM_153252.5(BRWD3):c.4791G>T (p.Glu1597Asp)
NM_153252.5(BRWD3):c.4872C>T (p.Asp1624=)
NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter)
NM_153252.5(BRWD3):c.763G>A (p.Ala255Thr)
NM_153252.5(BRWD3):c.814-4T>A rs749366665
NM_153252.5(BRWD3):c.814-4del rs751020595

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