ClinVar Miner

List of variants studied for mitochondrial complex 2 deficiency, nuclear type 4 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (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
Mitochondrial complex 2 deficiency, nuclear type 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.113G>A (p.Arg38His)	rs143058777	0.00010
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)	rs777578399	0.00003

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