ClinVar Miner

List of variants reported as benign for infantile liver failure by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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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_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.*8G>C rs55905826 0.01809
NM_015909.4(NBAS):c.4797+29T>A rs1318102
NM_015909.4:c.5725-13_5725-12insATTA rs1553349519

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