ClinVar Miner

List of variants in gene SFXN4 studied for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_213649.2(SFXN4):c.472-24T>A rs2420494 0.98520
NM_213649.2(SFXN4):c.354A>G (p.Ala118=) rs2181118 0.98355
NM_213649.2(SFXN4):c.415-6C>T rs2275111 0.48143
NM_213649.2(SFXN4):c.258A>G (p.Gln86=) rs10749291 0.46610
NM_213649.2(SFXN4):c.361-42C>T rs2275112 0.29607
NM_213649.2(SFXN4):c.617-3C>T rs17668734 0.28961
NM_213649.2(SFXN4):c.677C>T (p.Ala226Val) rs151157939 0.00012
NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu) rs377410779 0.00001
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) rs1156283736 0.00001
NM_213649.2(SFXN4):c.233del (p.Pro78fs) rs398124642
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter) rs2133612740
NM_213649.2(SFXN4):c.471+1G>A rs367932369
NM_213649.2(SFXN4):c.739dup (p.Arg247fs) rs1554886159
NM_213649.2(SFXN4):c.823C>T (p.Gln275Ter)
NM_213649.2(SFXN4):c.930del (p.Ile310fs) rs1589625048

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