ClinVar Miner

List of variants in gene BCKDHA reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_000709.4(BCKDHA):c.*244C>T rs749083860 0.00061
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.*20C>A rs370480422 0.00039
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_000709.3(BCKDHA):c.-25G>C rs202084220 0.00028
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_000709.4(BCKDHA):c.*314A>G rs535136507 0.00019
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_000709.4(BCKDHA):c.*384C>T rs535473868 0.00007
NM_000709.4(BCKDHA):c.*126G>A rs748757436 0.00005
NM_000709.4(BCKDHA):c.*213G>A rs766667517 0.00004
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr) rs373078413 0.00004
NM_000709.4(BCKDHA):c.108+12G>A rs780834493 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val) rs781688443 0.00003
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His) rs751862507 0.00002
NM_000709.4(BCKDHA):c.*335G>A rs886054463 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile) rs1568508232 0.00001
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr) rs760651615 0.00001
NM_000709.4(BCKDHA):c.*301G>A rs2039411821
NM_000709.4(BCKDHA):c.*365A>G rs886054464
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro) rs879103338
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) rs2039284438
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
NM_000709.4(BCKDHA):c.995+8C>T rs886054462
NM_000709.4(BCKDHA):c.995+9C>G rs13343330

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