ClinVar Miner

List of variants reported as likely pathogenic for Ellis-van Creveld syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.1470+3A>T	rs370769794	0.00007
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	rs761707323	0.00001
NM_153717.3(EVC):c.1777-1G>A	rs1262933856	0.00001

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