ClinVar Miner

List of variants studied for Infantile liver failure syndrome 1 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly) rs1753185601
NM_020117.11(LARS1):c.185G>A (p.Gly62Glu) rs745880730
NM_020117.11(LARS1):c.242G>T (p.Gly81Val) rs1561495759
NM_020117.11(LARS1):c.970T>G (p.Phe324Val) rs1753582790

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