ClinVar Miner

List of variants in gene LOC129992073, SH3BP2 studied for cherubism

Included ClinVar conditions (1):

Fibrous dysplasia of jaw

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001122681.2(SH3BP2):c.*1656T>C	rs146752554	0.00411
NM_001122681.2(SH3BP2):c.*1679C>T	rs549256215	0.00170
NM_001122681.2(SH3BP2):c.*1655C>T	rs563251509	0.00031

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