ClinVar Miner

List of variants in gene BCKDHA reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.41397770A>G rs892043 0.96880
NM_000709.4(BCKDHA):c.1167+177T>C rs284656 0.66699
NM_000709.4(BCKDHA):c.853+61T>C rs284651 0.66684
NM_000709.4(BCKDHA):c.484+149T>C rs3213860 0.66682
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.108+325C>T rs3810174 0.62598
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.-312A>T rs12983789 0.26042
NM_000709.4(BCKDHA):c.646+210A>G rs284647 0.12222
NM_000709.4(BCKDHA):c.853+118G>A rs73931483 0.03843
NM_000709.4(BCKDHA):c.375+74A>G rs73931479 0.03622
NM_000709.4(BCKDHA):c.484+169T>A rs73931480 0.03619
NM_000709.4(BCKDHA):c.1168-66C>T rs78812877 0.02948
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
NC_000019.10:g.41397667del rs201164681 0.01786
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_000709.3(BCKDHA):c.-28C>G rs114587707 0.00580
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.376-4C>T rs199725420 0.00084
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NC_000019.10:g.41397677del rs10712417
NC_000019.10:g.41397766A>G rs892044
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.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.996-33dup rs3217385

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