ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.853+61T>C rs284651 0.66684
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_000709.4(BCKDHA):c.995+90C>T rs284655 0.66401
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000709.4(BCKDHA):c.*309A>G rs10421626 0.02605
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000709.4(BCKDHA):c.996-18C>T rs201511678 0.00271
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_000709.4(BCKDHA):c.646+13G>A rs201333801 0.00038
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.1167+13del rs2122146856
NM_000709.4(BCKDHA):c.1167+17C>G rs550593850
NM_000709.4(BCKDHA):c.376-3dup rs2123259752
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.995+18del
NM_000709.4(BCKDHA):c.995+18dup
NM_000709.4(BCKDHA):c.996-33dup rs3217385

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