ClinVar Miner

List of variants reported as pathogenic for paragangliomas 4 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	rs138996609	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003000.3(SDHB):c.287-2A>G	rs1064794270

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