ClinVar Miner

List of variants reported as uncertain significance for Congenital amegakaryocytic thrombocytopenia

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.*914C>T rs186474263 0.00162
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.*657C>T rs886046352 0.00048
NM_005373.3(MPL):c.*871G>A rs540648773 0.00044
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_005373.3(MPL):c.*1112G>A rs543515941 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005373.3(MPL):c.*86C>T rs777930147 0.00011
NM_005373.3(MPL):c.*1674A>T rs536844021 0.00010
NM_005373.3(MPL):c.*970C>T rs777372120 0.00009
NM_005373.3(MPL):c.*971G>A rs886046355 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.*882C>T rs777894453 0.00006
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.*204C>A rs938693392 0.00004
NM_005373.3(MPL):c.*400C>T rs558390922 0.00004
NM_005373.3(MPL):c.*612G>A rs1037571354 0.00004
NM_005373.3(MPL):c.1385G>C (p.Arg462Pro) rs1175548872 0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_005373.3(MPL):c.*578C>T rs565438629 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005373.3(MPL):c.*255C>T rs1218431899 0.00002
NM_005373.3(MPL):c.*901G>A rs1267506501 0.00002
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) rs746440317 0.00002
NM_005373.3(MPL):c.*1021T>C rs1038231812 0.00001
NM_005373.3(MPL):c.*183G>A rs1228514763 0.00001
NM_005373.3(MPL):c.-13A>C rs746384923 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu) rs886046350 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) rs201727975 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) rs775165199 0.00001
NM_005373.3(MPL):c.854-3T>C rs201514537 0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val) rs886046348 0.00001
NM_005373.3(MPL):c.*1216A>G rs886046356
NM_005373.3(MPL):c.*1351T>C rs886046357
NM_005373.3(MPL):c.*1506G>C rs115780311
NM_005373.3(MPL):c.*170G>A rs574563778
NM_005373.3(MPL):c.*326A>C rs1647104727
NM_005373.3(MPL):c.*701_*705dup rs752218261
NM_005373.3(MPL):c.*705del rs752218261
NM_005373.3(MPL):c.*725T>C rs1647108363
NM_005373.3(MPL):c.*924C>G rs886046354
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.12G>A (p.Trp4Ter) rs1647004673
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) rs772445486
NM_005373.3(MPL):c.1437C>T (p.Asp479=) rs865799838
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr)
NM_005373.3(MPL):c.397C>T (p.Pro133Ser)
NM_005373.3(MPL):c.442G>C (p.Gly148Arg) rs1647014391
NM_005373.3(MPL):c.475C>G (p.Pro159Ala) rs1647014633
NM_005373.3(MPL):c.49C>T (p.Pro17Ser) rs1647004869
NM_005373.3(MPL):c.611C>T (p.Ser204Phe) rs1647015861
NM_005373.3(MPL):c.614C>T (p.Ala205Val)
NM_005373.3(MPL):c.678C>A (p.Ser226=) rs2153916873
NM_005373.3(MPL):c.757T>C (p.Trp253Arg)
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598

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