ClinVar Miner

List of variants in gene EVC2 reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 12
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HGVS dbSNP
NC_000004.12:g.5628611_5634201del
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.229-1G>T rs1214848359
NM_147127.5(EVC2):c.229-2A>G rs769799880
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3273-2del
NM_147127.5(EVC2):c.3361-2A>G
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-1_452del
NM_147127.5(EVC2):c.451-2A>G rs1553851870

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