ClinVar Miner

List of variants in gene ELP1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 473
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352 0.00058
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833 0.00041
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00038
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) rs137853022 0.00015
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr) rs151120244 0.00012
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003640.5(ELP1):c.3931+1G>T rs143674809 0.00010
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg) rs565257577 0.00009
NM_003640.5(ELP1):c.1093G>T (p.Gly365Cys) rs367921553 0.00008
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln) rs370575901 0.00007
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs137983175 0.00007
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) rs771838754 0.00007
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335 0.00007
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946 0.00006
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met) rs201596987 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 0.00006
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) rs754831171 0.00005
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356 0.00004
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120 0.00004
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888 0.00004
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln) rs369627815 0.00004
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122 0.00004
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377 0.00004
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp) rs374238430 0.00004
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039 0.00003
NM_003640.5(ELP1):c.2386A>G (p.Met796Val) rs748482757 0.00003
NM_003640.5(ELP1):c.2545C>G (p.Pro849Ala) rs34550675 0.00003
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser) rs1378971881 0.00003
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs200941360 0.00003
NM_003640.5(ELP1):c.3285+6A>T rs1465325866 0.00003
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046 0.00003
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) rs201888676 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg) rs557686367 0.00003
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 0.00003
NM_003640.5(ELP1):c.859G>A (p.Val287Ile) rs755938001 0.00003
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe) rs745948468 0.00002
NM_003640.5(ELP1):c.1408G>A (p.Gly470Arg) rs765727987 0.00002
NM_003640.5(ELP1):c.1466A>C (p.Gln489Pro) rs140229715 0.00002
NM_003640.5(ELP1):c.150+3A>G rs760208051 0.00002
NM_003640.5(ELP1):c.1511G>A (p.Gly504Asp) rs778215292 0.00002
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val) rs369856286 0.00002
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp) rs200397694 0.00002
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp) rs771647322 0.00002
NM_003640.5(ELP1):c.20T>G (p.Phe7Cys) rs1379847365 0.00002
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser) rs201601641 0.00002
NM_003640.5(ELP1):c.231G>C (p.Leu77Phe) rs1241114854 0.00002
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys) rs1181862976 0.00002
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985 0.00002
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs191464698 0.00002
NM_003640.5(ELP1):c.2585A>G (p.Gln862Arg) rs563636288 0.00002
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635 0.00002
NM_003640.5(ELP1):c.2807T>C (p.Ile936Thr) rs199617267 0.00002
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3046G>A (p.Glu1016Lys) rs868601119 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala) rs147069577 0.00002
NM_003640.5(ELP1):c.3222+4A>T rs367771963 0.00002
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) rs367582146 0.00002
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) rs201168521 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala) rs774585995 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
NM_003640.5(ELP1):c.1031G>A (p.Ser344Asn) rs374294411 0.00001
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626 0.00001
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu) rs187183483 0.00001
NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp) rs750718439 0.00001
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326 0.00001
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) rs1273486554 0.00001
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser) rs771123534 0.00001
NM_003640.5(ELP1):c.1180A>G (p.Ile394Val) rs1372225878 0.00001
NM_003640.5(ELP1):c.1190-5T>A rs1348750667 0.00001
NM_003640.5(ELP1):c.1190-6C>G rs1340978905 0.00001
NM_003640.5(ELP1):c.1191C>G (p.Asn397Lys) rs749277039 0.00001
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) rs369242781 0.00001
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu) rs375957332 0.00001
NM_003640.5(ELP1):c.1244C>T (p.Thr415Ile) rs756192004 0.00001
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr) rs773228197 0.00001
NM_003640.5(ELP1):c.1321G>A (p.Val441Ile) rs778927429 0.00001
NM_003640.5(ELP1):c.1346C>T (p.Ser449Phe) rs755630402 0.00001
NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg) rs754743691 0.00001
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491 0.00001
NM_003640.5(ELP1):c.1549G>A (p.Val517Ile) rs1451126639 0.00001
NM_003640.5(ELP1):c.1555C>T (p.His519Tyr) rs776729454 0.00001
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp) rs766737737 0.00001
NM_003640.5(ELP1):c.1584T>G (p.Ile528Met) rs745586570 0.00001
NM_003640.5(ELP1):c.1786T>C (p.Ser596Pro) rs749510215 0.00001
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347 0.00001
NM_003640.5(ELP1):c.1819T>C (p.Cys607Arg) rs1428249476 0.00001
NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys) rs1198964450 0.00001
NM_003640.5(ELP1):c.1854+3A>G rs773379221 0.00001
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn) rs202085601 0.00001
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) rs764320309 0.00001
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) rs762636526 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly) rs756120509 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658 0.00001
NM_003640.5(ELP1):c.2135C>T (p.Pro712Leu) rs752272003 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 0.00001
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233 0.00001
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2346G>T (p.Leu782Phe) rs1182966138 0.00001
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151 0.00001
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu) rs1307998361 0.00001
NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg) rs764026138 0.00001
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val) rs779097269 0.00001
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr) rs146958186 0.00001
NM_003640.5(ELP1):c.2675A>G (p.Asp892Gly) rs1423041055 0.00001
NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser) rs200590656 0.00001
NM_003640.5(ELP1):c.2693A>G (p.Tyr898Cys) rs199679232 0.00001
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 0.00001
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807 0.00001
NM_003640.5(ELP1):c.2910G>T (p.Leu970Phe) rs146198104 0.00001
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003640.5(ELP1):c.303+3A>G rs766433871 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.304-10T>A rs1417685633 0.00001
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr) rs770540843 0.00001
NM_003640.5(ELP1):c.3043C>T (p.His1015Tyr) rs762687399 0.00001
NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu) rs372822046 0.00001
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp) rs778943416 0.00001
NM_003640.5(ELP1):c.3094C>T (p.Leu1032Phe) rs774427341 0.00001
NM_003640.5(ELP1):c.3152C>T (p.Thr1051Ile) rs747546817 0.00001
NM_003640.5(ELP1):c.3169G>A (p.Val1057Ile) rs1370476500 0.00001
NM_003640.5(ELP1):c.3208G>A (p.Glu1070Lys) rs778318147 0.00001
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457 0.00001
NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val) rs752344797 0.00001
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) rs761896714 0.00001
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His) rs143580972 0.00001
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys) rs377679012 0.00001
NM_003640.5(ELP1):c.3425G>A (p.Arg1142Gln) rs746668947 0.00001
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg) rs1032686725 0.00001
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.3680A>G (p.Gln1227Arg) rs1272852371 0.00001
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574 0.00001
NM_003640.5(ELP1):c.3700+6T>G rs761423880 0.00001
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) rs756928248 0.00001
NM_003640.5(ELP1):c.3829A>T (p.Thr1277Ser) rs753141812 0.00001
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu) rs199813856 0.00001
NM_003640.5(ELP1):c.3855G>A (p.Pro1285=) rs901285079 0.00001
NM_003640.5(ELP1):c.3883A>G (p.Ser1295Gly) rs989681376 0.00001
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val) rs762773957 0.00001
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) rs200524123 0.00001
NM_003640.5(ELP1):c.3952C>A (p.Pro1318Thr) rs757781758 0.00001
NM_003640.5(ELP1):c.3961A>T (p.Asn1321Tyr) rs367795801 0.00001
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser) rs370034421 0.00001
NM_003640.5(ELP1):c.427A>G (p.Ile143Val) rs571422569 0.00001
NM_003640.5(ELP1):c.43A>G (p.Ile15Val) rs1250977761 0.00001
NM_003640.5(ELP1):c.49G>A (p.Gly17Ser) rs1829991757 0.00001
NM_003640.5(ELP1):c.593T>C (p.Val198Ala) rs948923581 0.00001
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp) rs773117166 0.00001
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln) rs749382362 0.00001
NM_003640.5(ELP1):c.667G>T (p.Val223Leu) rs769746039 0.00001
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys) rs1274927283 0.00001
NM_003640.5(ELP1):c.706C>A (p.Pro236Thr) rs1231418805 0.00001
NM_003640.5(ELP1):c.740+5G>C rs200291810 0.00001
NM_003640.5(ELP1):c.743C>T (p.Pro248Leu) rs1394468770 0.00001
NM_003640.5(ELP1):c.773A>G (p.Asp258Gly) rs1206581781 0.00001
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser) rs371587578 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 0.00001
NM_003640.5(ELP1):c.93G>T (p.Gly31=) rs778404648 0.00001
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.100C>G (p.Leu34Val) rs140944971
NM_003640.5(ELP1):c.1015A>C (p.Ser339Arg) rs1350193684
NM_003640.5(ELP1):c.1017C>G (p.Ser339Arg)
NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg) rs772819713
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe) rs1587908989
NM_003640.5(ELP1):c.104T>C (p.Ile35Thr)
NM_003640.5(ELP1):c.1057C>G (p.Pro353Ala)
NM_003640.5(ELP1):c.1066C>T (p.Pro356Ser) rs1339454272
NM_003640.5(ELP1):c.1092G>C (p.Gln364His) rs1829258370
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1099C>T (p.His367Tyr)
NM_003640.5(ELP1):c.1108G>A (p.Ala370Thr)
NM_003640.5(ELP1):c.1114G>C (p.Asp372His)
NM_003640.5(ELP1):c.1129A>G (p.Thr377Ala)
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly) rs766255360
NM_003640.5(ELP1):c.1136G>A (p.Arg379Gln)
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr) rs749865081
NM_003640.5(ELP1):c.1140C>A (p.Ser380Arg) rs771575205
NM_003640.5(ELP1):c.1147G>T (p.Asp383Tyr) rs1254770684
NM_003640.5(ELP1):c.1164G>C (p.Leu388Phe)
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs571143526
NM_003640.5(ELP1):c.1187G>C (p.Gly396Ala) rs1414061926
NM_003640.5(ELP1):c.1189+6C>G
NM_003640.5(ELP1):c.119G>T (p.Gly40Val) rs1829988830
NM_003640.5(ELP1):c.125T>C (p.Ile42Thr)
NM_003640.5(ELP1):c.1271T>A (p.Val424Glu)
NM_003640.5(ELP1):c.131T>C (p.Val44Ala) rs1829988347
NM_003640.5(ELP1):c.1331C>T (p.Ala444Val) rs2132013549
NM_003640.5(ELP1):c.1336A>G (p.Asn446Asp) rs1829197624
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1355A>C (p.Lys452Thr) rs1829195961
NM_003640.5(ELP1):c.1358G>A (p.Cys453Tyr)
NM_003640.5(ELP1):c.139G>A (p.Val47Ile) rs151209640
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
NM_003640.5(ELP1):c.1461-13A>G
NM_003640.5(ELP1):c.1477A>G (p.Asn493Asp)
NM_003640.5(ELP1):c.151-9T>G rs747310144
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.1540T>C (p.Phe514Leu) rs2132003509
NM_003640.5(ELP1):c.1570C>T (p.Pro524Ser)
NM_003640.5(ELP1):c.1576T>A (p.Ser526Thr) rs2132003336
NM_003640.5(ELP1):c.1603TCT[1] (p.Ser536del)
NM_003640.5(ELP1):c.1612A>G (p.Met538Val)
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1637A>G (p.Asn546Ser)
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly) rs1829015512
NM_003640.5(ELP1):c.1645T>C (p.Ser549Pro)
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu) rs376515761
NM_003640.5(ELP1):c.1666G>C (p.Val556Leu)
NM_003640.5(ELP1):c.1686C>G (p.Cys562Trp)
NM_003640.5(ELP1):c.1693A>G (p.Lys565Glu)
NM_003640.5(ELP1):c.1727G>A (p.Gly576Asp)
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile) rs199555804
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) rs199555804
NM_003640.5(ELP1):c.1744C>A (p.Leu582Ile)
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys) rs1828896602
NM_003640.5(ELP1):c.1774C>T (p.Pro592Ser)
NM_003640.5(ELP1):c.178G>A (p.Glu60Lys)
NM_003640.5(ELP1):c.1829C>T (p.Thr610Ile) rs1034282177
NM_003640.5(ELP1):c.1837G>A (p.Ala613Thr)
NM_003640.5(ELP1):c.1840A>G (p.Met614Val) rs568478937
NM_003640.5(ELP1):c.1846G>A (p.Gly616Arg)
NM_003640.5(ELP1):c.1867G>T (p.Gly623Cys)
NM_003640.5(ELP1):c.1877A>G (p.Asp626Gly) rs2131992524
NM_003640.5(ELP1):c.1881G>T (p.Arg627Ser)
NM_003640.5(ELP1):c.1885C>T (p.Arg629Cys)
NM_003640.5(ELP1):c.1897A>G (p.Asn633Asp)
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe) rs1829992932
NM_003640.5(ELP1):c.1909G>A (p.Val637Ile)
NM_003640.5(ELP1):c.190C>G (p.Pro64Ala)
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) rs377020122
NM_003640.5(ELP1):c.1942G>A (p.Asp648Asn)
NM_003640.5(ELP1):c.195G>T (p.Glu65Asp)
NM_003640.5(ELP1):c.1970C>T (p.Ser657Phe)
NM_003640.5(ELP1):c.1975A>G (p.Thr659Ala) rs200117008
NM_003640.5(ELP1):c.1975A>T (p.Thr659Ser) rs200117008
NM_003640.5(ELP1):c.2002G>A (p.Ala668Thr)
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro) rs1587896793
NM_003640.5(ELP1):c.2005T>G (p.Ser669Ala)
NM_003640.5(ELP1):c.2014+6T>G
NM_003640.5(ELP1):c.2036G>A (p.Ser679Asn) rs1828727895
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
NM_003640.5(ELP1):c.2054G>A (p.Gly685Glu) rs2131988688
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
NM_003640.5(ELP1):c.2068A>C (p.Lys690Gln) rs761858315
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) rs761858315
NM_003640.5(ELP1):c.2080G>T (p.Gly694Cys)
NM_003640.5(ELP1):c.2091T>G (p.Ile697Met)
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile) rs1828721515
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2107C>G (p.Gln703Glu) rs2131988430
NM_003640.5(ELP1):c.2119C>G (p.Leu707Val) rs769927115
NM_003640.5(ELP1):c.2131A>G (p.Met711Val)
NM_003640.5(ELP1):c.2161C>G (p.His721Asp) rs1300413546
NM_003640.5(ELP1):c.2170C>G (p.Leu724Val)
NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)
NM_003640.5(ELP1):c.2204+3_2204+6del
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2252A>G (p.Asn751Ser)
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2281A>G (p.Lys761Glu) rs1003255472
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr) rs1587893028
NM_003640.5(ELP1):c.2326T>A (p.Ser776Thr)
NM_003640.5(ELP1):c.2335C>T (p.His779Tyr) rs2131984597
NM_003640.5(ELP1):c.2336A>G (p.His779Arg) rs1431007165
NM_003640.5(ELP1):c.235G>C (p.Asp79His) rs1554703582
NM_003640.5(ELP1):c.235G>T (p.Asp79Tyr)
NM_003640.5(ELP1):c.2363A>G (p.Lys788Arg)
NM_003640.5(ELP1):c.236A>G (p.Asp79Gly)
NM_003640.5(ELP1):c.2370A>T (p.Glu790Asp)
NM_003640.5(ELP1):c.2372A>C (p.Asp791Ala) rs532550445
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs546587836
NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg) rs201596987
NM_003640.5(ELP1):c.2387T>C (p.Met796Thr)
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu) rs370041985
NM_003640.5(ELP1):c.2404A>G (p.Thr802Ala)
NM_003640.5(ELP1):c.2405C>G (p.Thr802Ser) rs1828592002
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn) rs1445493033
NM_003640.5(ELP1):c.2414T>C (p.Val805Ala) rs1564084435
NM_003640.5(ELP1):c.2420T>A (p.Leu807Gln) rs2131981963
NM_003640.5(ELP1):c.2431C>T (p.Pro811Ser) rs765376716
NM_003640.5(ELP1):c.2437G>A (p.Gly813Arg)
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp) rs1587926883
NM_003640.5(ELP1):c.2467A>G (p.Met823Val)
NM_003640.5(ELP1):c.2474C>T (p.Ala825Val)
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2530G>T (p.Val844Leu) rs754119022
NM_003640.5(ELP1):c.2567A>C (p.Gln856Pro)
NM_003640.5(ELP1):c.2573T>C (p.Val858Ala) rs2131981161
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly) rs199796698
NM_003640.5(ELP1):c.2617A>G (p.Ser873Gly)
NM_003640.5(ELP1):c.2653G>T (p.Val885Leu)
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys) rs200590656
NM_003640.5(ELP1):c.2736+3A>G
NM_003640.5(ELP1):c.2743A>G (p.Lys915Glu) rs749213608
NM_003640.5(ELP1):c.2761C>A (p.Leu921Ile)
NM_003640.5(ELP1):c.2761C>T (p.Leu921Phe) rs540615950
NM_003640.5(ELP1):c.2803A>G (p.Thr935Ala) rs145484092
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2825G>C (p.Arg942Pro)
NM_003640.5(ELP1):c.2828A>G (p.Tyr943Cys) rs924119518
NM_003640.5(ELP1):c.2852G>C (p.Ser951Thr)
NM_003640.5(ELP1):c.2854A>C (p.Lys952Gln)
NM_003640.5(ELP1):c.2864C>G (p.Pro955Arg) rs758112773
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe) rs1828405751
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.2936C>T (p.Ser979Leu) rs2131973288
NM_003640.5(ELP1):c.2958+3A>G rs1828401309
NM_003640.5(ELP1):c.2960A>T (p.Asp987Val)
NM_003640.5(ELP1):c.2969T>C (p.Ile990Thr)
NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr) rs144959233
NM_003640.5(ELP1):c.300A>T (p.Gln100His)
NM_003640.5(ELP1):c.3011C>T (p.Pro1004Leu)
NM_003640.5(ELP1):c.303+5G>C
NM_003640.5(ELP1):c.3035G>A (p.Cys1012Tyr)
NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val) rs1226103389
NM_003640.5(ELP1):c.3071C>G (p.Thr1024Arg)
NM_003640.5(ELP1):c.3107C>G (p.Ala1036Gly) rs766016072
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.3136G>T (p.Val1046Leu)
NM_003640.5(ELP1):c.313G>T (p.Val105Phe) rs764767995
NM_003640.5(ELP1):c.3145G>C (p.Gly1049Arg) rs761500263
NM_003640.5(ELP1):c.3191A>T (p.Asp1064Val)
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) rs972475636
NM_003640.5(ELP1):c.3209A>G (p.Glu1070Gly) rs376878918
NM_003640.5(ELP1):c.3214_3215delinsAT (p.Cys1072Ile) rs2131966122
NM_003640.5(ELP1):c.3215G>A (p.Cys1072Tyr)
NM_003640.5(ELP1):c.3224A>G (p.Asp1075Gly) rs1827955472
NM_003640.5(ELP1):c.3258A>T (p.Gly1086=) rs2118947272
NM_003640.5(ELP1):c.3283C>G (p.Leu1095Val)
NM_003640.5(ELP1):c.3294A>C (p.Lys1098Asn)
NM_003640.5(ELP1):c.3296A>T (p.Tyr1099Phe) rs1455391652
NM_003640.5(ELP1):c.3313A>G (p.Ile1105Val) rs2118946082
NM_003640.5(ELP1):c.3326T>C (p.Val1109Ala) rs1827936975
NM_003640.5(ELP1):c.3337A>C (p.Ile1113Leu) rs763262745
NM_003640.5(ELP1):c.3346+3G>A
NM_003640.5(ELP1):c.3357T>G (p.Asn1119Lys)
NM_003640.5(ELP1):c.3359A>G (p.Tyr1120Cys)
NM_003640.5(ELP1):c.3363G>C (p.Met1121Ile) rs910335280
NM_003640.5(ELP1):c.3375C>G (p.Asp1125Glu) rs753992200
NM_003640.5(ELP1):c.3397C>A (p.Arg1133Ser)
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3482A>G (p.Gln1161Arg)
NM_003640.5(ELP1):c.3490G>A (p.Asp1164Asn) rs1198624688
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe) rs144301886
NM_003640.5(ELP1):c.3498C>G (p.Phe1166Leu)
NM_003640.5(ELP1):c.3517G>A (p.Val1173Met)
NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn) rs143008686
NM_003640.5(ELP1):c.3572+4C>T
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.3572+5G>C rs773132143
NM_003640.5(ELP1):c.3572+5G>T rs773132143
NM_003640.5(ELP1):c.3580T>C (p.Ser1194Pro) rs2118936313
NM_003640.5(ELP1):c.3586A>G (p.Asn1196Asp) rs1564071274
NM_003640.5(ELP1):c.3589C>T (p.Arg1197Cys) rs370450007
NM_003640.5(ELP1):c.3590_3591delinsTA (p.Arg1197Leu)
NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro) rs200322331
NM_003640.5(ELP1):c.3597A>T (p.Lys1199Asn) rs1827797013
NM_003640.5(ELP1):c.3599C>T (p.Ala1200Val)
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.3605G>A (p.Arg1202Gln)
NM_003640.5(ELP1):c.3609G>T (p.Lys1203Asn) rs2118936145
NM_003640.5(ELP1):c.3635C>T (p.Pro1212Leu)
NM_003640.5(ELP1):c.3643G>A (p.Asp1215Asn)
NM_003640.5(ELP1):c.3650C>G (p.Ala1217Gly) rs1827793018
NM_003640.5(ELP1):c.3661G>A (p.Ala1221Thr)
NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del) rs1306291143
NM_003640.5(ELP1):c.3700+3A>G
NM_003640.5(ELP1):c.3715A>G (p.Ile1239Val)
NM_003640.5(ELP1):c.3737T>C (p.Phe1246Ser)
NM_003640.5(ELP1):c.3739G>A (p.Glu1247Lys)
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly) rs760084617
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
NM_003640.5(ELP1):c.3779A>T (p.Glu1260Val) rs1827768156
NM_003640.5(ELP1):c.3808C>G (p.Leu1270Val)
NM_003640.5(ELP1):c.3829dup (p.Thr1277fs)
NM_003640.5(ELP1):c.385+6C>G
NM_003640.5(ELP1):c.3865C>T (p.Pro1289Ser)
NM_003640.5(ELP1):c.3872C>G (p.Ser1291Cys) rs1827646757
NM_003640.5(ELP1):c.3874A>C (p.Thr1292Pro)
NM_003640.5(ELP1):c.3901C>G (p.Gln1301Glu)
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) rs1554737851
NM_003640.5(ELP1):c.3928C>G (p.Leu1310Val)
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3931+3_3931+6del rs1827641020
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.3955A>G (p.Lys1319Glu)
NM_003640.5(ELP1):c.3979A>T (p.Lys1327Ter)
NM_003640.5(ELP1):c.452A>T (p.Asp151Val) rs1829829317
NM_003640.5(ELP1):c.461G>C (p.Gly154Ala) rs2132043743
NM_003640.5(ELP1):c.466+5G>C rs745386940
NM_003640.5(ELP1):c.467-10del rs750475941
NM_003640.5(ELP1):c.490G>C (p.Gly164Arg) rs765765951
NM_003640.5(ELP1):c.509T>C (p.Phe170Ser)
NM_003640.5(ELP1):c.515G>A (p.Gly172Glu) rs1829697305
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.553-14_553-5del
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) rs771715592
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn) rs775011794
NM_003640.5(ELP1):c.581A>G (p.His194Arg) rs1682473914
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) rs367552387
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.650-18G>T
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly) rs777975034
NM_003640.5(ELP1):c.677G>C (p.Arg226Pro) rs758239907
NM_003640.5(ELP1):c.677G>T (p.Arg226Leu) rs758239907
NM_003640.5(ELP1):c.67T>C (p.Cys23Arg)
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.697A>T (p.Thr233Ser)
NM_003640.5(ELP1):c.741-4T>G rs1829498906
NM_003640.5(ELP1):c.741-9T>C
NM_003640.5(ELP1):c.74C>T (p.Ser25Phe) rs1829990677
NM_003640.5(ELP1):c.772G>C (p.Asp258His)
NM_003640.5(ELP1):c.779C>A (p.Pro260His)
NM_003640.5(ELP1):c.779C>G (p.Pro260Arg) rs2132028041
NM_003640.5(ELP1):c.791A>G (p.Asp264Gly)
NM_003640.5(ELP1):c.838C>T (p.Leu280Phe)
NM_003640.5(ELP1):c.841C>G (p.Pro281Ala) rs2132027839
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.854A>T (p.Asp285Val) rs1829487738
NM_003640.5(ELP1):c.860T>C (p.Val287Ala) rs1031067109
NM_003640.5(ELP1):c.864+6T>C rs1829486746
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe) rs1288706972
NM_003640.5(ELP1):c.916G>A (p.Glu306Lys)
NM_003640.5(ELP1):c.943A>G (p.Ile315Val)
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_003640.5(ELP1):c.987C>G (p.His329Gln) rs764033545

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.