ClinVar Miner

List of variants reported as benign for infantile liver failure

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.514-11C>T rs10208972 0.64424
NM_015909.4(NBAS):c.287+20_287+21insT rs34789730 0.64408
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) rs7590340 0.62925
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) rs13014906 0.62509
NM_015909.4(NBAS):c.1148-9G>C rs1990755 0.61252
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) rs1990754 0.61213
NM_015909.4(NBAS):c.1148-26G>A rs1990756 0.61206
NM_015909.4(NBAS):c.1147+11C>T rs1125534 0.60275
NM_015909.4(NBAS):c.5138+24G>A rs4668892 0.53637
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) rs13029846 0.52998
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) rs4668909 0.50682
NM_018006.5(TRMU):c.*276G>A rs13585 0.24909
NM_015909.4(NBAS):c.4462-31A>G rs2042145 0.23973
NM_021930.6(RINT1):c.118A>T (p.Ser40Cys) rs11556986 0.19903
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_021930.6(RINT1):c.2067+13A>C rs864687 0.10655
NM_021930.6(RINT1):c.2068-22T>C rs861761 0.10556
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.*151C>T rs116347546 0.03272
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.*124G>C rs116303153 0.01300
NM_018006.5(TRMU):c.*210G>C rs141551983 0.01148
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_018006.5(TRMU):c.-44G>A rs370964036 0.00021
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_015909.4(NBAS):c.4797+29T>A rs1318102
NM_015909.4:c.5725-13_5725-12insATTA rs1553349519
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315

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