ClinVar Miner

List of variants in gene P3H1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn) rs200334947 0.00013
NM_022356.4(P3H1):c.1224G>A (p.Lys408=) rs778202277 0.00006
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) rs141759655 0.00004
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) rs758596191 0.00004
NM_022356.4(P3H1):c.2006G>A (p.Arg669His) rs578161008 0.00004
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe) rs769782854 0.00003
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2055+13C>G rs76628300

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