ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5630335)_(5635926_?)del
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.