ClinVar Miner

List of variants in gene NDUFS2 reported as likely benign for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_001377299.1(NDUFS2):c.1116+20A>G rs200063148 0.00044
NM_001377299.1(NDUFS2):c.393+12G>A rs180970484 0.00011
NM_001377299.1(NDUFS2):c.1213-20C>T rs139327184 0.00009
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_001377299.1(NDUFS2):c.1355-7C>T rs749095282 0.00005
NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=) rs755626092 0.00003
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=) rs763804955 0.00003

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