List of variants in gene CYB5R3 reported as pathogenic for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
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.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.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.103A>C (p.Thr35Pro)	rs1601943088
NM_000398.7(CYB5R3):c.226+2T>C	rs1601938489
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter)	rs121965014
NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys)	rs1299251737
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro)	rs121965006
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro)	rs121965008
NM_000398.7(CYB5R3):c.463+8G>C	rs200872504
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg)	rs121965011
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter)	rs121965010
NM_000398.7(CYB5R3):c.734-1G>T	rs794728011
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del)	rs121965017
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

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