ClinVar Miner

List of variants reported as benign for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
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_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_003002.4(SDHD):c.315-13del rs2135277277
NM_003002.4(SDHD):c.315-13dup rs2135277277
NM_003002.4(SDHD):c.52+8del rs2135264855
NM_003002.4(SDHD):c.53-52_53-49del rs562618773

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