ClinVar Miner

List of variants in gene SDHD reported as likely pathogenic for mitochondrial complex II deficiency, nuclear type

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)	rs202198133	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_003002.4(SDHD):c.113_122del (p.Arg38fs)
NM_003002.4(SDHD):c.315-1G>A	rs1555187566
NM_003002.4(SDHD):c.315-2A>T
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	rs876658477

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