ClinVar Miner

List of variants in gene BCKDK reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240 0.00063
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=) rs141335706 0.00021
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr) rs200689545 0.00011
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00009
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) rs374121679 0.00007
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419 0.00006
NM_005881.4(BCKDK):c.1021C>A (p.Gln341Lys) rs372199017 0.00003
NM_005881.4(BCKDK):c.1115C>T (p.Thr372Met) rs780549207 0.00003
NM_005881.4(BCKDK):c.670C>T (p.Arg224Cys) rs762515151 0.00003
NM_005881.4(BCKDK):c.1120C>T (p.Arg374Trp) rs781432488 0.00001
NM_005881.4(BCKDK):c.47C>T (p.Pro16Leu) rs749467687 0.00001
NM_005881.4(BCKDK):c.488A>G (p.Lys163Arg) rs780261448 0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597 0.00001
NM_005881.4(BCKDK):c.*9C>A rs199965337
NM_005881.4(BCKDK):c.*9C>T rs199965337
NM_005881.4(BCKDK):c.1149_1163del (p.Leu386_Gln390del) rs398124213
NM_005881.4(BCKDK):c.466C>G (p.Arg156Gly) rs397514573
NM_005881.4(BCKDK):c.716+10G>C rs727503823
NM_005881.4(BCKDK):c.846-3T>A rs118042732

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