ClinVar Miner

List of variants reported as uncertain significance for CBL-related disorder by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (5):

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_005188.4(CBL):c.1099_1101del (p.Gln367del)	rs1555230070
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)	rs576175174
NM_005188.4(CBL):c.710C>T (p.Ser237Leu)	rs1949868655

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