ClinVar Miner

List of variants in gene P3H1 reported as likely benign for not specified

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_022356.4(P3H1):c.*4_*10del rs767524042
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.619-5A>C rs1057523341
NM_022356.4(P3H1):c.808+9A>T rs1553143084

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