ClinVar Miner

List of variants reported as benign for mitochondrial complex II deficiency, nuclear type by Genome-Nilou Lab

Included ClinVar conditions (14):

Carney-Stratakis syndrome; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex 2 deficiency, nuclear type 2
Mitochondrial complex 2 deficiency, nuclear type 3
Mitochondrial complex 2 deficiency, nuclear type 4
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)	rs7249826	1.00000
NM_004168.4(SDHA):c.1795-66C>T	rs387134	0.98913
NM_003000.3(SDHB):c.201-36G>T	rs1022580	0.95416
NM_003000.3(SDHB):c.18C>A (p.Ala6=)	rs2746462	0.95374
NM_004168.4(SDHA):c.891T>C (p.Pro297=)	rs1126417	0.74998
NM_004168.4(SDHA):c.456+91G>C	rs12520059	0.38073
NM_003002.4(SDHD):c.315-32T>C	rs4151637	0.11444
NM_003002.4(SDHD):c.170-29A>G	rs9919624	0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=)	rs9919552	0.11428
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	rs34677591	0.00706
NM_004168.4(SDHA):c.771-11A>G	rs2288461

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