ClinVar Miner

List of variants studied for anhaptoglobinemia

Included ClinVar conditions (2):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005143.5(HP):c.-91A>C rs5471 0.03896
NM_005143.5(HP):c.740T>C (p.Ile247Thr) rs104894517 0.00025
NC_000016.10:g.(?_72054504)_(?_72076977)del
NM_000053.4(ATP7B):c.703_705del (p.Pro235del)
NM_005143.5(HP):c.111dup (p.Glu38fs) rs778198124

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