ClinVar Miner

List of variants reported as pathogenic for Analbuminemia

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Total variants: 7
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HGVS dbSNP
NM_000477.7(ALB):c.*102_*108del
NM_000477.7(ALB):c.1098dup (p.Val367fs) rs1577939845
NM_000477.7(ALB):c.166C>T (p.Gln56Ter) rs75470261
NM_000477.7(ALB):c.412C>T (p.Arg138Ter) rs77238412
NM_000477.7(ALB):c.714-2A>G rs77335374
NM_000477.7(ALB):c.714G>A (p.Trp238Ter) rs76454301
NM_000477.7(ALB):c.872dup (p.Asn291fs) rs77449454

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