ClinVar Miner

List of variants studied for Riley-Day syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.*1351C>A rs4978371 0.41826
NM_003640.5(ELP1):c.-301C>G rs2275641 0.35638
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.3285+9C>T rs2275495 0.18606
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.*1071G>A rs41305457 0.11134
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605 0.09707
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.*1260C>T rs13299651 0.07241
NM_003640.5(ELP1):c.*1259C>G rs13299652 0.07240
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_003640.5(ELP1):c.*861T>G rs74671462 0.03303
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_003640.5(ELP1):c.*392A>G rs10979577 0.01747
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.*1214C>T rs143906434 0.00555
NM_003640.5(ELP1):c.*902C>T rs139728295 0.00347
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.*1247T>C rs76994656 0.00100
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 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.*1494A>G rs543323193 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.*1489G>A rs78224677 0.00061
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352 0.00058
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.*579A>G rs772683091 0.00041
NM_003640.5(ELP1):c.*502C>T rs56305287 0.00039
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003640.5(ELP1):c.-242T>G rs765585828 0.00032
NM_003640.5(ELP1):c.*1412T>A rs117081559 0.00029
NM_017832.2(ABITRAM):c.-149G>A rs1050167142 0.00027
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297 0.00021
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_003640.5(ELP1):c.*1277T>G rs537888003 0.00012
NM_003640.5(ELP1):c.*1281T>C rs189897190 0.00011
NM_003640.5(ELP1):c.*569T>C rs928660237 0.00011
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.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_003640.5(ELP1):c.*1240T>C rs1040975275 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
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.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.649+12T>C rs375554772 0.00005
NM_003640.5(ELP1):c.*1291A>G rs971258024 0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.304-5C>T rs370384351 0.00004
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.4(ELP1):c.-403C>T rs886063352 0.00003
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003640.5(ELP1):c.3346+6G>C rs774179813 0.00003
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) rs201888676 0.00003
NM_003640.4(ELP1):c.-323C>T rs901684930 0.00002
NM_003640.4(ELP1):c.-343T>G rs568907421 0.00002
NM_003640.5(ELP1):c.*1062G>T rs559551917 0.00002
NM_003640.5(ELP1):c.*1352A>G rs886063344 0.00002
NM_003640.5(ELP1):c.*1566A>G rs1007495788 0.00002
NM_003640.5(ELP1):c.-115A>T rs932890007 0.00002
NM_003640.5(ELP1):c.2210T>C (p.Met737Thr) rs747028759 0.00002
NM_003640.5(ELP1):c.2958+10A>T rs768709875 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003640.5(ELP1):c.*1054T>C rs577931217 0.00001
NM_003640.5(ELP1):c.*1194C>T rs1827297908 0.00001
NM_003640.5(ELP1):c.*1511T>C rs758269307 0.00001
NM_003640.5(ELP1):c.-156G>A rs886063350 0.00001
NM_003640.5(ELP1):c.-183C>T rs1437319593 0.00001
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) rs774132326 0.00001
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2502-13C>T rs138510668 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=) rs764867856 0.00001
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457 0.00001
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076 0.00001
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345 0.00001
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_003640.5(ELP1):c.717A>C (p.Gly239=) rs1333495798 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.5(ELP1):c.*103A>G rs1827336019
NM_003640.5(ELP1):c.*1124C>T rs746907451
NM_003640.5(ELP1):c.*1191T>G rs539404183
NM_003640.5(ELP1):c.*1196G>T rs1827297816
NM_003640.5(ELP1):c.*1254C>A rs879924643
NM_003640.5(ELP1):c.*1406A>G rs1827290161
NM_003640.5(ELP1):c.*1428G>T rs1040481870
NM_003640.5(ELP1):c.*1429C>T rs199666995
NM_003640.5(ELP1):c.*344A>G rs555355380
NM_003640.5(ELP1):c.*636T>C rs1827316671
NM_003640.5(ELP1):c.*705C>T rs1827314926
NM_003640.5(ELP1):c.*769T>A rs1827312944
NM_003640.5(ELP1):c.*806A>C rs549486672
NM_003640.5(ELP1):c.*82G>A rs1827337150
NM_003640.5(ELP1):c.*838C>T rs772279169
NM_003640.5(ELP1):c.-155A>G rs117100816
NM_003640.5(ELP1):c.-155A>T rs117100816
NM_003640.5(ELP1):c.-158C>G rs530824179
NM_003640.5(ELP1):c.-177C>T rs138630440
NM_003640.5(ELP1):c.-179G>C rs528803158
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln) rs1829093766
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1482A>C (p.Glu494Asp) rs1829023404
NM_003640.5(ELP1):c.1655C>G (p.Ala552Gly) rs139891858
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1749G>C (p.Trp583Cys) rs1828896752
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
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.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.297A>G (p.Thr99=) rs1829937351
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3572+12A>T rs1055164302
NM_003640.5(ELP1):c.626T>C (p.Val209Ala) rs1039834492
NM_017832.2(ABITRAM):c.-147G>C rs1251331564

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