ClinVar Miner

List of variants studied for infantile liver failure by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys) rs140855946 0.00033
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser) rs140841721 0.00001
NM_015909.4(NBAS):c.513+2T>C rs1663675984 0.00001
NM_015909.4(NBAS):c.2802G>A (p.Trp934Ter) rs1572813576
NM_015909.4(NBAS):c.406A>G (p.Arg136Gly) rs1253033456
NM_015909.4(NBAS):c.956A>G (p.Asp319Gly)
NM_020117.11(LARS1):c.554C>T (p.Pro185Leu) rs1363237554

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