ClinVar Miner

List of variants in gene CSF2RB reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000395.3(CSF2RB):c.1944A>G (p.Pro648=) rs131840 0.76677
NM_000395.3(CSF2RB):c.1278C>T (p.Ser426=) rs1801117 0.20878
NM_000395.3(CSF2RB):c.745G>C (p.Glu249Gln) rs16845 0.10045
NM_000395.3(CSF2RB):c.1569-13T>G rs16997510 0.06392
NM_000395.3(CSF2RB):c.1954G>A (p.Val652Met) rs1801114 0.05618
NM_000395.3(CSF2RB):c.702C>T (p.Cys234=) rs16846 0.04733
NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser) rs16997517 0.04626
NM_000395.3(CSF2RB):c.1807C>A (p.Pro603Thr) rs1801122 0.03051
NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=) rs1801116 0.02350
NM_000395.3(CSF2RB):c.2430C>A (p.Pro810=) rs2228092 0.01431
NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn) rs117805308 0.01316
NM_000395.3(CSF2RB):c.1153-13T>C rs117405606 0.00731
NM_000395.3(CSF2RB):c.1596C>T (p.Ser532=) rs115580664 0.00495
NM_000395.3(CSF2RB):c.1464+15C>T rs186445757 0.00153
NM_000395.3(CSF2RB):c.2608G>A (p.Val870Ile) rs149281832 0.00034
NM_000395.3(CSF2RB):c.2431G>A (p.Glu811Lys) rs144413438 0.00014
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu) rs139685237 0.00003
NM_000395.3(CSF2RB):c.673C>T (p.Arg225Cys) rs145546133 0.00003
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741

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