ClinVar Miner

List of variants reported as uncertain significance for Familial dysautonomia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
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.959-10T>C rs144059169 0.00035
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_003640.5(ELP1):c.650-7C>T rs368410371 0.00022
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297 0.00021
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312 0.00020
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) rs137853022 0.00015
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.3573-7C>G rs370571926 0.00011
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) rs748458910 0.00009
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.1093G>T (p.Gly365Cys) rs367921553 0.00008
NM_003640.5(ELP1):c.3346+7G>T rs144631706 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.-31G>C rs375962780 0.00006
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.2588-6T>G rs1350078150 0.00006
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00006
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 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.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.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp) rs374238430 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 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.270A>T (p.Gly90=) rs200640674 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.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.3346+6G>C rs774179813 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.470A>G (p.Lys157Arg) rs557686367 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.-45T>C rs371791247 0.00002
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala) rs770333327 0.00002
NM_003640.5(ELP1):c.1141G>A (p.Val381Met) rs769108524 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.2086C>T (p.Arg696Trp) rs771647322 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.23G>A (p.Arg8Gln) rs370041985 0.00002
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs191464698 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.3046G>A (p.Glu1016Lys) rs868601119 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.3604C>T (p.Arg1202Trp) rs201168521 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
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.1084C>T (p.Leu362Phe) rs774132326 0.00001
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser) rs771123534 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.1214G>A (p.Arg405Gln) rs369242781 0.00001
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu) rs375957332 0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951 0.00001
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr) rs773228197 0.00001
NM_003640.5(ELP1):c.1323T>C (p.Val441=) rs200925118 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.1386A>G (p.Thr462=) rs1829093869 0.00001
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403 0.00001
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491 0.00001
NM_003640.5(ELP1):c.151-10T>C rs768610434 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.1854+3A>G rs773379221 0.00001
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser) rs370377909 0.00001
NM_003640.5(ELP1):c.1876G>A (p.Asp626Asn) rs202085601 0.00001
NM_003640.5(ELP1):c.1938A>G (p.Val646=) rs750906847 0.00001
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) rs764320309 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.2148A>C (p.Leu716Phe) rs1828702034 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.2439G>T (p.Gly813=) rs1828590245 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.2707G>A (p.Val903Ile) rs1828552741 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.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003640.5(ELP1):c.303+11G>A rs549703822 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.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.334A>G (p.Ile112Val) rs1451932418 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.3478G>A (p.Gly1160Arg) rs1032686725 0.00001
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076 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.3784A>G (p.Thr1262Ala) rs200634033 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.3886A>G (p.Ile1296Val) rs762773957 0.00001
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) rs200524123 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.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.740+5G>C rs200291810 0.00001
NM_003640.5(ELP1):c.743C>T (p.Pro248Leu) rs1394468770 0.00001
NM_003640.5(ELP1):c.768A>G (p.Thr256=) rs985459923 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.958+11T>G rs201309418 0.00001
NM_003640.5(ELP1):c.-38A>G rs768298252
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.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr) rs749865081
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.119G>T (p.Gly40Val) rs1829988830
NM_003640.5(ELP1):c.1278A>G (p.Gln426=) rs372511606
NM_003640.5(ELP1):c.131T>C (p.Val44Ala) rs1829988347
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr) rs147575152
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1360+10A>G rs1587907182
NM_003640.5(ELP1):c.1361-3C>A rs1829095177
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.151-9T>G rs747310144
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.1586A>G (p.His529Arg) rs1829018937
NM_003640.5(ELP1):c.1642A>G (p.Ser548Gly) rs1829015512
NM_003640.5(ELP1):c.1657G>T (p.Val553Leu) rs376515761
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.1750+9C>G rs1828896199
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys) rs1828896602
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu) rs1828814518
NM_003640.5(ELP1):c.18A>T (p.Leu6Phe) rs1829992932
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) rs377020122
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe) rs1828805989
NM_003640.5(ELP1):c.1975A>G (p.Thr659Ala) rs200117008
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro) rs1587896793
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
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.2092G>A (p.Val698Ile) rs1828721515
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr) rs1587893028
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.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.23G>T (p.Arg8Leu) rs370041985
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.243G>T (p.Glu81Asp) rs1587926883
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2528A>G (p.His843Arg) rs1828577961
NM_003640.5(ELP1):c.2579A>G (p.Glu860Gly) rs199796698
NM_003640.5(ELP1):c.2686G>T (p.Gly896Cys) rs200590656
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.2992C>G (p.Gln998Glu) rs1828328786
NM_003640.5(ELP1):c.3002T>C (p.Met1001Thr) rs144959233
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser) rs1296107083
NM_003640.5(ELP1):c.3062C>T (p.Ala1021Val) rs1226103389
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.313G>T (p.Val105Phe) rs764767995
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) rs972475636
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.3375C>G (p.Asp1125Glu) rs753992200
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe) rs144301886
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=) rs1827834154
NM_003640.5(ELP1):c.3521G>A (p.Ser1174Asn) rs143008686
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=) rs747272918
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.3593G>C (p.Arg1198Pro) rs200322331
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr) rs1827793180
NM_003640.5(ELP1):c.3673GTG[1] (p.Val1226del) rs1306291143
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly) rs760084617
NM_003640.5(ELP1):c.3779A>T (p.Glu1260Val) rs1827768156
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.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.515G>A (p.Gly172Glu) rs1829697305
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.553-4_553-3del rs757409808
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.608A>T (p.Asp203Val) rs1829558657
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.653C>T (p.Ala218Val) rs1564102159
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly) rs777975034
NM_003640.5(ELP1):c.741-4T>G rs1829498906
NM_003640.5(ELP1):c.824A>G (p.His275Arg) rs1564100993
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.864+6T>C rs1829486746
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe) rs1288706972

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