ClinVar Miner

List of variants in gene HPD reported as benign for Hawkinsinuria

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_001171993.2(HPD):c.-115+47G>A rs3741591 0.32519
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12828
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02144
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00657
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00624
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00037
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00009
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00003
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095

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