List of variants studied for hematologic disorder by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_000506.5(F2):c.*97G>A	rs1799963	0.00979
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	rs45439097	0.00121
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00065
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	rs28997571	0.00034
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)	rs140348260	0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)	rs730881725	0.00004
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	rs571668582	0.00001
NM_032043.3(BRIP1):c.1474-3T>C	rs552752779	0.00001
NM_032782.5(HAVCR2):c.332G>A (p.Arg111Gln)	rs367701067	0.00001
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000253.4(MTTP):c.-149C>A	rs886058955
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr)	rs761740133
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)	rs2136333791

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