List of variants reported as likely pathogenic for blood platelet disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)	rs76811038	0.00006
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)	rs770402221	0.00002
NM_005373.3(MPL):c.981-1G>C	rs769297582	0.00001
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
NM_000419.5(ITGA2B):c.1946+3G>T
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)	rs794727279
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)	rs727503284
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1653+2T>C
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	rs1373623383
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)	rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)	rs1057517996

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