ClinVar Miner

List of variants in gene BCKDHA reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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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.*125C>T rs140867211 0.00851
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.996-68C>T rs10407077 0.00784
NM_000709.4(BCKDHA):c.646+149A>G rs78727437 0.00754
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.289-45C>G rs200242482 0.00447
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.485-28G>A rs114178789 0.00186
NM_000709.4(BCKDHA):c.853+30C>T rs150511115 0.00139
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.708C>T (p.Phe236=) rs146932786 0.00092
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_000709.4(BCKDHA):c.646+13G>A rs201333801 0.00038
NM_000709.3(BCKDHA):c.-25G>C rs202084220 0.00028
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=) rs80014754 0.00028
NM_000709.4(BCKDHA):c.375+4C>T rs377496852 0.00025
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=) rs150700696 0.00020
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=) rs138025447 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_000709.4(BCKDHA):c.995+19G>A rs373076000 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=) rs200363605 0.00009
NM_000709.4(BCKDHA):c.288+10G>A rs376894084 0.00007
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=) rs376446100 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=) rs775754845 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser) rs766755823 0.00001
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=) rs749795206 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NC_000019.10:g.41397669T>A rs530303012
NC_000019.10:g.41397677del rs10712417
NC_000019.10:g.41397766A>G rs892044
NM_000709.3(BCKDHA):c.-22C>A rs201197268
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
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+17C>G rs550593850
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.62C>T (p.Ala21Val)
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=) rs140322984
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln) rs761996996
NM_000709.4(BCKDHA):c.853+11T>C rs1555767032
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
NM_000709.4(BCKDHA):c.996-33dup rs3217385

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