List of variants in gene CFHR5 reported as uncertain significance for CFHR5 deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	rs201084185	0.00019
NM_030787.4(CFHR5):c.608-3T>A	rs375481393	0.00016
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	rs138834145	0.00009
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.1195C>T (p.Gln399Ter)	rs772780646
NM_030787.4(CFHR5):c.1225del (p.Asp409fs)	rs771972507
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
NM_030787.4(CFHR5):c.14T>A (p.Phe5Tyr)	rs1653431638
NM_030787.4(CFHR5):c.1686_1707del (p.Lys562fs)
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu)	rs370641856
NM_030787.4(CFHR5):c.1A>G (p.Met1Val)	rs1653430949
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	rs375843181
NM_030787.4(CFHR5):c.331C>T (p.Gln111Ter)	rs1653615913
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)	rs138529008
NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg)
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)	rs565457964
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	rs565457964
NM_030787.4(CFHR5):c.53dup (p.Glu19fs)	rs771671663
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	rs147488267

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