ClinVar Miner

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

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ClinVar version:
Total variants: 168
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HGVS dbSNP
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.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.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs0
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.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.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.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.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.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.1586A>G (p.His529Arg) rs0
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1750+9C>G rs0
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
NM_003640.5(ELP1):c.1859G>C (p.Cys620Ser) rs0
NM_003640.5(ELP1):c.1888T>C (p.Phe630Leu) rs0
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.1961C>A (p.Thr654Lys) rs764320309
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.2032A>G (p.Ser678Gly) rs756120509
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.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.2217A>G (p.Lys739=) rs139583037
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233
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.2325T>G (p.Asp775Glu) rs757701039
NM_003640.5(ELP1):c.2336A>G (p.His779Arg) rs1431007165
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs0
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.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.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.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.2786C>G (p.Thr929Ser) rs1378971881
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635
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.2845C>T (p.His949Tyr) rs201440191
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.2992C>G (p.Gln998Glu) rs0
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.303+11G>A rs0
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377
NM_003640.5(ELP1):c.304-10T>A rs0
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.3137T>C (p.Val1046Ala) rs0
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) rs972475636
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.3346+6G>C rs774179813
NM_003640.5(ELP1):c.3346+7G>T rs144631706
NM_003640.5(ELP1):c.334A>G (p.Ile112Val) rs0
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.3454G>A (p.Gly1152Ser) rs771838754
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+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.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.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.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.3785C>T (p.Thr1262Met) rs199723919
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.3886A>G (p.Ile1296Val) rs0
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs0
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.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.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.608A>T (p.Asp203Val) rs0
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) rs541666513
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.741-4T>G rs0
NM_003640.5(ELP1):c.768A>G (p.Thr256=) rs0
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
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.947C>T (p.Pro316Leu) rs374814563
NM_003640.5(ELP1):c.958+11T>G rs0
NM_003640.5(ELP1):c.959-10T>C rs144059169

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