ClinVar Miner

List of variants reported as pathogenic for Infantile liver failure syndrome 2

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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.1749G>A (p.Trp583Ter) rs770446752 0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter) rs376113678 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) rs368196005 0.00001
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser) rs140841721 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_015909.4(NBAS):c.2802G>A (p.Trp934Ter) rs1572813576
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015909.4(NBAS):c.4255del (p.Ser1419fs)
NM_015909.4(NBAS):c.4288C>T (p.Gln1430Ter) rs2148233321
NM_015909.4(NBAS):c.5262del (p.Phe1754fs) rs1669613513
NM_015909.4(NBAS):c.558_560del (p.Ile187del) rs796065037
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662

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