ClinVar Miner

List of variants in gene EVC 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: 70
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
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_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 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
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
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_153717.3(EVC):c.1084del (p.Glu362fs)
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.1316-7A>G
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1652dup (p.Glu552fs) rs1312383000
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1776+2T>C rs1577564571
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
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.1981C>T (p.Gln661Ter)
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.2143_2144del (p.Gln715fs)
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C rs2474508727
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
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.2695G>T (p.Glu899Ter)
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
NM_153717.3(EVC):c.384+1G>T
NM_153717.3(EVC):c.56_174+42del rs2474193391
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A rs2474673801
NM_153717.3(EVC):c.618-1G>A
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.90_91insT (p.Ala31fs)
NM_153717.3(EVC):c.918C>G (p.Tyr306Ter)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928

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