ClinVar Miner

List of variants reported as uncertain significance for Thrombocythemia 1

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Total variants: 45
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HGVS dbSNP
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
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.*500A>G rs886058217
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.13G>A (p.Glu5Lys)
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.233A>G (p.Glu78Gly)
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540
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.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
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.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
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.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348

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