ClinVar Miner

List of variants in gene CYB5R3 reported as pathogenic for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.7(CYB5R3):c.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609
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.757G>A (p.Val253Met) rs144071404
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012

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