ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome; Curry-Hall syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00028
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00022
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00021
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00017
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp) rs151063193 0.00016
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00013
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00003
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00003
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00003
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
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.884C>G (p.Thr295Ser) rs754532508 0.00003
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2047-2A>G rs1553833239 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter) rs1043590599 0.00001
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter) rs779407729 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
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.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2304+2T>C rs1553892090 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter) rs186349183
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter) rs2475385307
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.2656G>A (p.Glu886Lys)
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2710C>T (p.Gln904Ter)
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter) rs2475235455
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+2T>C
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084del (p.Glu362fs)
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1316-7A>G
NM_153717.3(EVC):c.1652dup (p.Glu552fs) rs1312383000
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
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.2545C>T (p.Gln849Ter) rs561852174
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.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.618-1G>A
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262

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