ClinVar Miner

List of variants reported as benign for partial duplication of the short arm of chromosome 17

Included ClinVar conditions (7):

Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer
Charcot-Marie-Tooth disease, type IA
Chromosome 17p13.3 duplication syndrome
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA
Potocki-Lupski syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.79-6C>T	rs201682989	0.00069
NM_144997.7(FLCN):c.1538+10A>C	rs12451312	0.00010
NM_144997.7(FLCN):c.75G>A (p.Leu25=)	rs200350612

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