List of variants studied for bone marrow disorder by Molecular Diagnostics Laboratory, University of Rochester Medical Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00002
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	rs121913499	0.00001
NM_000546.6(TP53):c.323_329dup (p.Leu111fs)	rs1131691004
NM_000546.6(TP53):c.331del (p.Leu111fs)	rs2151039122
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs)	rs2146872060

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