ClinVar Miner

List of variants in gene CFHR5 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.608-3T>A rs375481393 0.00016
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln) rs776538115 0.00005
NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp) rs371283133 0.00004
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr) rs780116839 0.00004
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu) rs370641856
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)

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