ClinVar Miner

List of variants reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153717.3(EVC):c.301-1G>A rs1363547577 0.00002
NM_147127.5(EVC2):c.1711-1G>A rs1553836169 0.00001
NM_147127.5(EVC2):c.2047-2A>G rs1553833239 0.00001
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.3558-2A>G rs1319211611 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_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2304+2T>C rs1553892090 0.00001
NM_153717.3(EVC):c.300+1G>T rs2474376997 0.00001
NM_153717.3(EVC):c.385-1G>A rs2474666866 0.00001
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5612949)_(5633604_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5630338)_(5635928_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733132)_(5735182_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5754598)_(5758602_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5803694)_(5804872_?)del
NM_147127.5(EVC2):c.1005+1G>A rs2475514671
NM_147127.5(EVC2):c.1145+2del rs2475505734
NM_147127.5(EVC2):c.1146-2A>T rs1717279590
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C rs2475436920
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.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.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2501+1G>T rs2475373423
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A rs749251178
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2829+2T>C rs2475350092
NM_147127.5(EVC2):c.2829+2T>G rs2475350092
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3058-1G>C rs1722942071
NM_147127.5(EVC2):c.3058-1G>T rs1722942071
NM_147127.5(EVC2):c.3272+1G>T rs2475207726
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3361-255_3481del
NM_147127.5(EVC2):c.3361-2del rs757914735
NM_147127.5(EVC2):c.450+1G>C rs1447633595
NM_147127.5(EVC2):c.450+2T>G rs781096099
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 rs2475591881
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.817-1G>T rs2475566241
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.1098+1G>A rs1729681346
NM_153717.3(EVC):c.1099-1G>A rs2475378269
NM_153717.3(EVC):c.1099-2A>C rs1553875596
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1776+2T>C rs1577564571
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T rs2474380998
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1A>G (p.Met1Val) rs1324604027
NM_153717.3(EVC):c.2097+1G>A rs1553891368
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C rs2474508727
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G rs1577664431
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr) rs1553857801
NM_153717.3(EVC):c.56_174+42del rs2474193391
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A rs2474673801
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.801+1G>T rs1447653524
NM_153717.3(EVC):c.801+2T>C rs1553871866
NM_153717.3(EVC):c.802-2A>G rs2475056620
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928

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.