ClinVar Miner

List of variants in gene CYB5R3 studied for anemia

Included ClinVar conditions (288):
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00010
NM_000398.7(CYB5R3):c.316G>A (p.Val106Met) rs121965009 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro) rs121965013 0.00002
NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr) rs772310694 0.00002
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) rs121965015 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000398.7(CYB5R3):c.190C>G (p.Leu64Val) rs777361441 0.00001
NM_000398.7(CYB5R3):c.547+1G>A rs1161477501 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) rs763259379 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) rs754251915 0.00001
NM_000398.7(CYB5R3):c.103A>C (p.Thr35Pro) rs1601943088
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)
NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys) rs1299251737
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala)
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro) rs121965008
NM_000398.7(CYB5R3):c.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg) rs121965011
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter) rs121965010
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)
NM_000398.7(CYB5R3):c.734-1G>T rs794728011
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) rs121965017
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) rs750819571
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)

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