ClinVar Miner

List of variants in gene P3H1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.2190G>A (p.Ser730=) rs537555305 0.00004
NM_022356.4(P3H1):c.809-5T>C rs781474350 0.00004
NM_022356.4(P3H1):c.2055+48G>A rs773921230 0.00003
NM_022356.4(P3H1):c.1086C>T (p.Ala362=) rs777090883 0.00001
NM_022356.4(P3H1):c.690G>C (p.Ala230=) rs376714509
NM_022356.4(P3H1):c.808+9A>T rs1553143084
NM_022356.4(P3H1):c.940+15C>G

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