ClinVar Miner

List of variants reported as uncertain significance for corpus callosum lipoma

Included ClinVar conditions (3):

Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology
Pericallosal lipoma; Skin tags; Midline facial cleft
Preauricular skin tag; Pericallosal lipoma; Skin tags

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_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)	rs202038275	0.00023
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)	rs794727100
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)	rs771986131

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