ClinVar Miner

List of variants studied for Maple syrup urine disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=) rs200363605 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys) rs753452195 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.951+4T>C rs778135997

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