ClinVar Miner

List of variants reported as pathogenic for mitochondrial complex II deficiency, nuclear type by Fulgent Genetics, Fulgent Genetics

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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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	rs748089700	0.00005
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	rs781764920	0.00003
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	rs786201095	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	rs786202100
NM_003000.3(SDHB):c.541-2A>G	rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	rs786202732
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	rs587776648
NM_003002.4(SDHD):c.57del (p.Leu20fs)	rs587776649

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