List of variants studied for blood platelet disease by Genetic Services Laboratory, University of Chicago

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)	rs78977446	0.00106
NM_005373.3(MPL):c.235_236del (p.Leu79fs)	rs587778514	0.00005
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	rs121913615	0.00001
NM_001987.5(ETV6):c.614del (p.Leu205fs)	rs1555144911
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)	rs1064797083
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	rs80338831
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)	rs1553128241
NM_005373.3(MPL):c.972del (p.Arg325fs)	rs770457041
NM_014915.3(ANKRD26):c.-119C>G	rs1554800065
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)	rs1553659758
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)	rs1553663498

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