ClinVar Miner

List of variants in gene CYB5R3 reported as uncertain significance for methemoglobinemia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00075
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr) rs75478217 0.00029
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu) rs142587038 0.00014
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00009
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg) rs370253340 0.00008
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln) rs200877999 0.00005
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn) rs536045979 0.00004
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys) rs142077669 0.00003
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser) rs778446022 0.00002
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr) rs1442202553 0.00002
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln) rs751269167 0.00001
NM_000398.7(CYB5R3):c.145G>A (p.Asp49Asn)
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) rs774242947
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg) rs149268873
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr) rs367914897
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln) rs766031719
NM_000398.7(CYB5R3):c.440G>C (p.Gly147Ala) rs1928397593
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr) rs1369861477
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn) rs199593698
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp) rs2518880653

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