ClinVar Miner

List of variants reported as uncertain significance for Familial dysautonomia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
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HGVS dbSNP
NC_000009.11:g.(?_111693257)_(111693446_?)dup rs0
NC_000009.12:g.108934131G>A rs0
NC_000009.12:g.108934151A>C rs0
NC_000009.12:g.108934338G>A rs0
NC_000009.12:g.108934340G>C rs0
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-403C>T rs886063352
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.5(ELP1):c.*103A>G rs0
NM_003640.5(ELP1):c.*1054T>C rs0
NM_003640.5(ELP1):c.*1062G>T rs559551917
NM_003640.5(ELP1):c.*1124C>T rs746907451
NM_003640.5(ELP1):c.*1191T>G rs539404183
NM_003640.5(ELP1):c.*1194C>T rs0
NM_003640.5(ELP1):c.*1196G>T rs0
NM_003640.5(ELP1):c.*1214C>T rs143906434
NM_003640.5(ELP1):c.*1240T>C rs0
NM_003640.5(ELP1):c.*1254C>A rs879924643
NM_003640.5(ELP1):c.*1277T>G rs537888003
NM_003640.5(ELP1):c.*1281T>C rs0
NM_003640.5(ELP1):c.*1291A>G rs0
NM_003640.5(ELP1):c.*1352A>G rs886063344
NM_003640.5(ELP1):c.*1406A>G rs0
NM_003640.5(ELP1):c.*1412T>A rs0
NM_003640.5(ELP1):c.*1428G>T rs0
NM_003640.5(ELP1):c.*1429C>T rs0
NM_003640.5(ELP1):c.*1489G>A rs0
NM_003640.5(ELP1):c.*1494A>G rs543323193
NM_003640.5(ELP1):c.*1511T>C rs0
NM_003640.5(ELP1):c.*1566A>G rs0
NM_003640.5(ELP1):c.*344A>G rs0
NM_003640.5(ELP1):c.*502C>T rs56305287
NM_003640.5(ELP1):c.*569T>C rs0
NM_003640.5(ELP1):c.*579A>G rs0
NM_003640.5(ELP1):c.*636T>C rs0
NM_003640.5(ELP1):c.*705C>T rs0
NM_003640.5(ELP1):c.*769T>A rs0
NM_003640.5(ELP1):c.*806A>C rs0
NM_003640.5(ELP1):c.*82G>A rs0
NM_003640.5(ELP1):c.*838C>T rs0
NM_003640.5(ELP1):c.*902C>T rs0
NM_003640.5(ELP1):c.-115A>T rs0
NM_003640.5(ELP1):c.-155A>T rs117100816
NM_003640.5(ELP1):c.-156G>A rs886063350
NM_003640.5(ELP1):c.-158C>G rs530824179
NM_003640.5(ELP1):c.-177C>T rs138630440
NM_003640.5(ELP1):c.-179G>C rs0
NM_003640.5(ELP1):c.-183C>T rs0
NM_003640.5(ELP1):c.-242T>G rs765585828
NM_003640.5(ELP1):c.-31G>C rs375962780
NM_003640.5(ELP1):c.-38A>G rs0
NM_003640.5(ELP1):c.-45T>C rs0
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala) rs0
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) rs748458910
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe) rs1587908989
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu) rs187183483
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs0
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly) rs766255360
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360
NM_003640.5(ELP1):c.1141G>A (p.Val381Met) rs0
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) rs1273486554
NM_003640.5(ELP1):c.1174G>T (p.Ala392Ser) rs0
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs0
NM_003640.5(ELP1):c.1190-5T>A rs0
NM_003640.5(ELP1):c.119G>T (p.Gly40Val) rs0
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) rs369242781
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu) rs375957332
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951
NM_003640.5(ELP1):c.1278A>G (p.Gln426=) rs0
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833
NM_003640.5(ELP1):c.1323T>C (p.Val441=) rs0
NM_003640.5(ELP1):c.1343T>C (p.Ile448Thr) rs0
NM_003640.5(ELP1):c.1360+10A>G rs1587907182
NM_003640.5(ELP1):c.1361-3C>A rs0
NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg) rs0
NM_003640.5(ELP1):c.1386A>G (p.Thr462=) rs0
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln) rs0
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs0
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp) rs0
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491
NM_003640.5(ELP1):c.150+3A>G rs0
NM_003640.5(ELP1):c.151-10T>C rs0
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) rs201706900
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp) rs766737737
NM_003640.5(ELP1):c.1586A>G (p.His529Arg) rs0
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly) rs0
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.5(ELP1):c.1705_1707GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys) rs0
NM_003640.5(ELP1):c.1750+9C>G rs0
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
NM_003640.5(ELP1):c.1854+3A>G rs773379221
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser) rs0
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu) rs0
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs0
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) rs0
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122
NM_003640.5(ELP1):c.1938A>G (p.Val646=) rs0
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe) rs0
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del) rs1554696595
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs0
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) rs764320309
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly) rs756120509
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) rs761858315
NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp) rs0
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658
NM_003640.5(ELP1):c.2148A>C (p.Leu716Phe) rs0
NM_003640.5(ELP1):c.2210T>C (p.Met737Thr) rs0
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr) rs1587893028
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039
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.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs0
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met) rs201596987
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu) rs370041985
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs0
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847
NM_003640.5(ELP1):c.2439G>T (p.Gly813=) rs0
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu) rs0
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs0
NM_003640.5(ELP1):c.2501+4T>G rs0
NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg) rs0
NM_003640.5(ELP1):c.2502-13C>T rs0
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2515A>G (p.Ile839Val) rs0
NM_003640.5(ELP1):c.2528A>G (p.His843Arg) rs0
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs0
NM_003640.5(ELP1):c.2588-6T>G rs1350078150
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr) rs146958186
NM_003640.5(ELP1):c.2686G>A (p.Gly896Ser) rs0
NM_003640.5(ELP1):c.2707G>A (p.Val903Ile) rs0
NM_003640.5(ELP1):c.270A>T (p.Gly90=) rs200640674
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser) rs1378971881
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191
NM_003640.5(ELP1):c.2861-12T>G rs0
NM_003640.5(ELP1):c.2870A>T (p.Tyr957Phe) rs0
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr) rs0
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669
NM_003640.5(ELP1):c.2958+10A>T rs768709875
NM_003640.5(ELP1):c.297A>G (p.Thr99=) rs0
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu) rs0
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.303+11G>A rs0
NM_003640.5(ELP1):c.303+3A>G rs766433871
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377
NM_003640.5(ELP1):c.304-10T>A rs0
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser) rs0
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp) rs0
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.3128A>G (p.Asp1043Gly) rs1388335304
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs0
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=) rs0
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) rs972475636
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352
NM_003640.5(ELP1):c.3222+14C>T rs374787755
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs0
NM_003640.5(ELP1):c.3285+6A>T rs1465325866
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) rs761896714
NM_003640.5(ELP1):c.3346+6G>C rs774179813
NM_003640.5(ELP1):c.3346+7G>T rs144631706
NM_003640.5(ELP1):c.3347-15A>G rs200154542
NM_003640.5(ELP1):c.334A>G (p.Ile112Val) rs0
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3368T>C (p.Phe1123Ser) rs1587873285
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865
NM_003640.5(ELP1):c.3409C>T (p.Arg1137Cys) rs0
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) rs771838754
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg) rs1032686725
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe) rs0
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=) rs0
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335
NM_003640.5(ELP1):c.3570A>G (p.Ser1190=) rs0
NM_003640.5(ELP1):c.3572+12A>T rs0
NM_003640.5(ELP1):c.3572+5G>C rs773132143
NM_003640.5(ELP1):c.3572+5G>T rs773132143
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs0
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) rs0
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3636G>T (p.Pro1212=) rs780520998
NM_003640.5(ELP1):c.3649G>A (p.Ala1217Thr) rs0
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574
NM_003640.5(ELP1):c.3700+6T>G rs761423880
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly) rs0
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala) rs0
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) rs201888676
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs0
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu) rs199813856
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val) rs0
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) rs1554737851
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768
NM_003640.5(ELP1):c.3931+14C>G rs555520875
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs0
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.447T>C (p.His149=) rs0
NM_003640.5(ELP1):c.466+5G>C rs0
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.574G>A (p.Asp192Asn) rs0
NM_003640.5(ELP1):c.593T>C (p.Val198Ala) rs0
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.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.608A>T (p.Asp203Val) rs0
NM_003640.5(ELP1):c.626T>C (p.Val209Ala) rs0
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
NM_003640.5(ELP1):c.649+12T>C rs0
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.650-7C>T rs368410371
NM_003640.5(ELP1):c.653C>T (p.Ala218Val) rs0
NM_003640.5(ELP1):c.655C>T (p.Arg219Trp) rs0
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly) rs0
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys) rs1274927283
NM_003640.5(ELP1):c.717A>C (p.Gly239=) rs1333495798
NM_003640.5(ELP1):c.741-4T>G rs0
NM_003640.5(ELP1):c.768A>G (p.Thr256=) rs0
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser) rs371587578
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.5(ELP1):c.824A>G (p.His275Arg) rs0
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000
NM_003640.5(ELP1):c.865-9C>T rs748084965
NM_003640.5(ELP1):c.893C>T (p.Ser298Phe) rs0
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889
NM_003640.5(ELP1):c.958+11T>G rs0
NM_003640.5(ELP1):c.959-10T>C rs144059169
NM_003640.5(ELP1):c.959-8C>T rs766511916

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