ClinVar Miner

List of variants in gene NBAS reported as likely pathogenic for infantile liver failure

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) rs767280377 0.00001
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) rs761330483 0.00001
NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) rs1677547983 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 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.2203-2A>G
NM_015909.4(NBAS):c.2630G>T (p.Gly877Val) rs2148464034
NM_015909.4(NBAS):c.2764-1G>C
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.3160G>T (p.Gly1054Ter)
NM_015909.4(NBAS):c.335+1G>A rs1573008071
NM_015909.4(NBAS):c.3505_3506del (p.Lys1169fs)
NM_015909.4(NBAS):c.3940A>T (p.Lys1314Ter) rs1673479296
NM_015909.4(NBAS):c.406A>G (p.Arg136Gly) rs1253033456
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
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.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.6877del (p.Leu2293fs) rs761634052
NM_015909.4(NBAS):c.893del (p.Lys298fs) rs2148636494
NM_015909.4(NBAS):c.956A>G (p.Asp319Gly)

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