ClinVar Miner

List of variants in gene CSF1R studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.1626+3G>A rs41424145 0.00137
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) rs146406037 0.00086
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001288705.3(CSF1R):c.317G>A (p.Arg106Gln) rs535129002 0.00019
NM_001288705.3(CSF1R):c.796G>A (p.Asp266Asn) rs148357861 0.00016
NM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser) rs140815605 0.00009
NM_001288705.3(CSF1R):c.187G>C (p.Asp63His) rs141621829 0.00009
NM_001288705.3(CSF1R):c.1645C>T (p.Arg549Cys) rs370624765 0.00004
NM_001288705.3(CSF1R):c.943G>A (p.Val315Met) rs756763314 0.00004
NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) rs780547939 0.00002
NM_001288705.3(CSF1R):c.1199-6C>T rs1037469343 0.00001
NM_001288705.3(CSF1R):c.1043A>G (p.Glu348Gly)
NM_001288705.3(CSF1R):c.1178C>T (p.Thr393Met)
NM_001288705.3(CSF1R):c.122G>A (p.Arg41Gln)
NM_001288705.3(CSF1R):c.1241C>T (p.Ser414Phe)
NM_001288705.3(CSF1R):c.1435C>A (p.His479Asn)
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.1567A>C (p.Met523Leu)
NM_001288705.3(CSF1R):c.1672G>A (p.Gly558Ser)
NM_001288705.3(CSF1R):c.1714A>G (p.Asn572Asp)
NM_001288705.3(CSF1R):c.1772G>C (p.Gly591Ala)
NM_001288705.3(CSF1R):c.2128C>T (p.Arg710Cys)
NM_001288705.3(CSF1R):c.223A>G (p.Thr75Ala)
NM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr)
NM_001288705.3(CSF1R):c.258G>T (p.Glu86Asp)
NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro) rs56059682
NM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu)
NM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys)
NM_001288705.3(CSF1R):c.328G>A (p.Val110Met)
NM_001288705.3(CSF1R):c.436C>T (p.Arg146Trp)
NM_001288705.3(CSF1R):c.458A>G (p.Asn153Ser)
NM_001288705.3(CSF1R):c.473C>T (p.Pro158Leu)
NM_001288705.3(CSF1R):c.554del (p.Lys185fs)

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