ClinVar Miner

List of variants in gene DBT reported as benign for Maple syrup urine disease

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_001918.5(DBT):c.37A>G (p.Asn13Asp) rs140308307 0.00024
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_001918.5(DBT):c.1210-9_1210-8insT rs201755806 0.00020
NM_001918.5(DBT):c.747C>A (p.Gly249=) rs200612682 0.00013
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_001918.5(DBT):c.1018-10dup rs1287581664
NM_001918.5(DBT):c.1018-3del rs2100780335
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001918.5(DBT):c.1210-11_1210-10inv
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1210-4dup rs201117345
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.1282-18_1282-10del rs752915898
NM_001918.5(DBT):c.1282-19_1282-10del rs752915898
NM_001918.5(DBT):c.1282-24_1282-10dup rs752915898
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001918.5(DBT):c.556-3dup

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