ClinVar Miner

List of variants studied for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter) rs376113678 0.00001
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter) rs778338208 0.00001
NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs) rs775395168
NM_015909.4(NBAS):c.1A>T (p.Met1Leu) rs368516200
NM_015909.4(NBAS):c.2764-1G>C
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter) rs2148225587
NM_015909.4(NBAS):c.4461+2T>C
NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_015909.4(NBAS):c.6877del (p.Leu2293fs) rs761634052
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.773-1G>C
NM_018006.5(TRMU):c.873+1G>C
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)

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