ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.2055+193G>A rs116577636 0.00625
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.2055+13C>G rs76628300

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