ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_015909.4(NBAS):c.335+1G>A rs1573008071

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