ClinVar Miner

List of variants studied for Thrombocythemia 1 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*18G>A rs180680111
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
NM_000460.4(THPO):c.*35G>A rs6141
NM_000460.4(THPO):c.*366G>C
NM_000460.4(THPO):c.*404G>A rs573846929
NM_000460.4(THPO):c.*480G>A
NM_000460.4(THPO):c.*482A>T rs3804618
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.*59G>A rs78565404
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-136T>C rs956732
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.310C>A (p.Pro104Thr)
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro)
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440
NM_000460.4(THPO):c.796C>T (p.Arg266Cys)
NM_000460.4(THPO):c.808G>A (p.Gly270Arg)
NM_000460.4(THPO):c.852G>A (p.Leu284=)
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851

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