ClinVar Miner

List of variants reported as likely pathogenic for McKusick-Kaufman syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (3):

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_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_170784.3(MKKS):c.1646T>C (p.Leu549Pro)
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)	rs1297985227

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