ClinVar Miner

List of variants in gene P3H1 reported by Eurofins NTD LLC (GA)

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.689C>T (p.Ala230Val) rs369342678 0.00013
NM_022356.4(P3H1):c.1068C>T (p.Ile356=) rs373669933 0.00011
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.1910T>A (p.Val637Glu) rs1385918597 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.852G>A (p.Thr284=) rs765846480 0.00002
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe) rs1344810292 0.00001
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1221G>A (p.Gln407=) rs886043833
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser) rs759787229
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662

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