ClinVar Miner

List of variants reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180

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