List of variants reported as uncertain significance for Congenital amegakaryocytic thrombocytopenia by Illumina Laboratory Services, Illumina

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Total variants: 44

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HGVS	dbSNP	gnomAD frequency
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.*657C>T	rs886046352	0.00048
NM_005373.3(MPL):c.*871G>A	rs540648773	0.00044
NM_005373.3(MPL):c.*1112G>A	rs543515941	0.00039
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.*882C>T	rs777894453	0.00006
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)	rs201998783	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.*578C>T	rs565438629	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.*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.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.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.1527C>A (p.Gly509=)	rs1570472144
NM_005373.3(MPL):c.196C>T (p.Leu66=)	rs886046349
NM_005373.3(MPL):c.442G>C (p.Gly148Arg)	rs1647014391
NM_005373.3(MPL):c.49C>T (p.Pro17Ser)	rs1647004869
NM_005373.3(MPL):c.611C>T (p.Ser204Phe)	rs1647015861

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