ClinVar Miner

List of variants in gene CFHR5 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile) rs35957013 0.00079
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu) rs144438200 0.00062
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn) rs143240067 0.00048
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro) rs146025130 0.00046
NM_030787.4(CFHR5):c.1664G>C (p.Arg555Pro) rs143599784 0.00023
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00023
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His) rs776063846 0.00006
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu) rs544857720 0.00006
NM_030787.4(CFHR5):c.1615T>G (p.Phe539Val) rs111989094 0.00004
NM_030787.4(CFHR5):c.711C>A (p.Cys237Ter) rs201267612 0.00004
NM_030787.4(CFHR5):c.1604A>G (p.Asp535Gly) rs138797107 0.00003
NM_030787.4(CFHR5):c.1066C>T (p.Arg356Cys) rs747163679 0.00002
NM_030787.4(CFHR5):c.1647A>G (p.Ile549Met) rs142546471 0.00002
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val) rs915090892 0.00002
NM_030787.4(CFHR5):c.733G>A (p.Gly245Arg) rs201808624 0.00002
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter) rs772780646 0.00001
NM_030787.4(CFHR5):c.1159C>A (p.Gln387Lys)
NM_030787.4(CFHR5):c.1337C>A (p.Thr446Asn)
NM_030787.4(CFHR5):c.1541T>C (p.Met514Thr)
NM_030787.4(CFHR5):c.1558_1559del (p.Gln520fs) rs1279656189
NM_030787.4(CFHR5):c.1696C>T (p.Pro566Ser) rs748430882
NM_030787.4(CFHR5):c.1697C>T (p.Pro566Leu)
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.239C>A (p.Thr80Lys)
NM_030787.4(CFHR5):c.254-2_266dup rs781568341
NM_030787.4(CFHR5):c.258G>T (p.Met86Ile) rs775616599
NM_030787.4(CFHR5):c.344A>G (p.Asn115Ser)
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.430+5G>T
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.608G>A (p.Gly203Glu)
NM_030787.4(CFHR5):c.62C>T (p.Thr21Ile) rs377563612
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
NM_030787.4(CFHR5):c.703T>C (p.Tyr235His) rs1653974854
NM_030787.4(CFHR5):c.759T>G (p.Asp253Glu)
NM_030787.4(CFHR5):c.841C>A (p.Gln281Lys) rs1419726038
NM_030787.4(CFHR5):c.971-6T>G
NM_030787.4(CFHR5):c.986_988del (p.Lys329del) rs752782146

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