ClinVar Miner

List of variants in gene LIAS reported as likely benign for Lipoic acid synthetase deficiency

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573 0.00048
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903 0.00019
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137 0.00009
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792 0.00009
NM_006859.4(LIAS):c.1116C>G (p.Leu372=) rs376183576 0.00007
NM_006859.4(LIAS):c.999A>G (p.Lys333=) rs372877643 0.00006
NM_006859.4(LIAS):c.393+7C>T rs372423537 0.00005
NM_006859.4(LIAS):c.609-19T>C rs1169661442 0.00005
NM_006859.4(LIAS):c.1066+20A>G rs748825373 0.00004
NM_006859.4(LIAS):c.114C>G (p.Leu38=) rs750439302 0.00004
NM_006859.4(LIAS):c.737+9G>A rs750744754 0.00004
NM_006859.4(LIAS):c.168G>A (p.Arg56=) rs768182597 0.00003
NM_006859.4(LIAS):c.375C>T (p.Thr125=) rs538035764 0.00003
NM_006859.4(LIAS):c.738-20A>G rs777702565 0.00003
NM_006859.4(LIAS):c.234A>G (p.Pro78=) rs766730917 0.00002
NM_006859.4(LIAS):c.46-16T>C rs752442762 0.00002
NM_006859.4(LIAS):c.737+11G>A rs760672937 0.00002
NM_006859.4(LIAS):c.1029T>C (p.Thr343=) rs777324779 0.00001
NM_006859.4(LIAS):c.138A>G (p.Gln46=) rs1040093656 0.00001
NM_006859.4(LIAS):c.186T>C (p.Tyr62=) rs1166998501 0.00001
NM_006859.4(LIAS):c.330A>T (p.Arg110=) rs757501311 0.00001
NM_006859.4(LIAS):c.378C>T (p.Ala126=) rs1190479485 0.00001
NM_006859.4(LIAS):c.387G>A (p.Thr129=) rs746196972 0.00001
NM_006859.4(LIAS):c.405C>T (p.Asp135=) rs1458548365 0.00001
NM_006859.4(LIAS):c.529C>T (p.Leu177=) rs750168413 0.00001
NM_006859.4(LIAS):c.608+13G>A rs1003800399 0.00001
NM_006859.4(LIAS):c.69C>T (p.Ser23=) rs946086496 0.00001
NM_006859.4(LIAS):c.737+10T>G rs773328488 0.00001
NM_006859.4(LIAS):c.737+8C>T rs984126692 0.00001
NM_006859.4(LIAS):c.738-9G>A rs1256747817 0.00001
NM_006859.4(LIAS):c.789A>G (p.Lys263=) rs1234796638 0.00001
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971 0.00001
NM_006859.4(LIAS):c.867A>G (p.Val289=) rs745794858 0.00001
NM_006859.4(LIAS):c.883+17A>G rs768249393 0.00001
NM_006859.4(LIAS):c.884-18G>A rs754933240 0.00001
NM_006859.4(LIAS):c.884-4A>G rs1182861876 0.00001
NM_006859.4(LIAS):c.884-5T>A rs374449188 0.00001
NM_006859.4(LIAS):c.916T>C (p.Leu306=) rs779455306 0.00001
NM_006859.4(LIAS):c.1023T>C (p.His341=)
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
NM_006859.4(LIAS):c.105A>G (p.Lys35=) rs2109867811
NM_006859.4(LIAS):c.1065A>T (p.Ala355=) rs765479168
NM_006859.4(LIAS):c.1066+12T>C
NM_006859.4(LIAS):c.1066+16G>A
NM_006859.4(LIAS):c.1066+18G>T
NM_006859.4(LIAS):c.1066+19C>T
NM_006859.4(LIAS):c.1067-11T>C rs1315541765
NM_006859.4(LIAS):c.1067-15C>G
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.1113C>T (p.Asp371=)
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
NM_006859.4(LIAS):c.144T>C (p.Phe48=) rs745864982
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
NM_006859.4(LIAS):c.218+14T>A
NM_006859.4(LIAS):c.218+15G>A
NM_006859.4(LIAS):c.218+19T>C
NM_006859.4(LIAS):c.218+7_218+13dup
NM_006859.4(LIAS):c.219-6C>T
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
NM_006859.4(LIAS):c.312+17T>G rs1744546093
NM_006859.4(LIAS):c.312+8G>T
NM_006859.4(LIAS):c.313-12T>G rs2109872778
NM_006859.4(LIAS):c.313-14C>T
NM_006859.4(LIAS):c.313-19C>T
NM_006859.4(LIAS):c.313-6A>G
NM_006859.4(LIAS):c.313-7C>T
NM_006859.4(LIAS):c.315A>G (p.Val105=)
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
NM_006859.4(LIAS):c.393+17C>T
NM_006859.4(LIAS):c.393+7C>A rs372423537
NM_006859.4(LIAS):c.45+10G>A
NM_006859.4(LIAS):c.45+12G>A
NM_006859.4(LIAS):c.45+18C>T
NM_006859.4(LIAS):c.45+19G>T
NM_006859.4(LIAS):c.45+20G>T rs1424759183
NM_006859.4(LIAS):c.45+7G>A rs1263617011
NM_006859.4(LIAS):c.46-13A>T
NM_006859.4(LIAS):c.46-17A>G rs2109867537
NM_006859.4(LIAS):c.46-5T>C rs764526355
NM_006859.4(LIAS):c.462A>C (p.Pro154=) rs924459280
NM_006859.4(LIAS):c.550+11C>T
NM_006859.4(LIAS):c.550+12A>G
NM_006859.4(LIAS):c.550+16T>C
NM_006859.4(LIAS):c.550+9G>A rs1744712599
NM_006859.4(LIAS):c.551-16A>T
NM_006859.4(LIAS):c.551-19T>C rs2109875645
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
NM_006859.4(LIAS):c.597T>C (p.Tyr199=) rs2109875753
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
NM_006859.4(LIAS):c.608+7A>C
NM_006859.4(LIAS):c.609-13C>T
NM_006859.4(LIAS):c.609-6C>T rs1744804569
NM_006859.4(LIAS):c.705A>C (p.Ala235=) rs111583368
NM_006859.4(LIAS):c.714A>G (p.Val238=)
NM_006859.4(LIAS):c.723C>A (p.Val241=) rs1029290249
NM_006859.4(LIAS):c.737+20A>T
NM_006859.4(LIAS):c.737+6dup
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
NM_006859.4(LIAS):c.834A>C (p.Ile278=)
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
NM_006859.4(LIAS):c.849C>A (p.Gly283=) rs146030265
NM_006859.4(LIAS):c.883+10T>C
NM_006859.4(LIAS):c.883+15_883+56del rs1368518925
NM_006859.4(LIAS):c.900T>C (p.Asp300=) rs958145023
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
NM_006859.4(LIAS):c.954+11C>A
NM_006859.4(LIAS):c.954+18dup
NM_006859.4(LIAS):c.954+20C>G
NM_006859.4(LIAS):c.954+20C>T rs918706580
NM_006859.4(LIAS):c.954+9A>G
NM_006859.4(LIAS):c.955-11T>C
NM_006859.4(LIAS):c.955-13T>G rs755822707
NM_006859.4(LIAS):c.955-4C>G rs2109887808
NM_006859.4(LIAS):c.955-7A>T
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
NM_006859.4(LIAS):c.975T>C (p.Pro325=)

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