List of variants in gene CSF1R reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001288705.3(CSF1R):c.1047del (p.Lys350fs)	rs2481020701
NM_001288705.3(CSF1R):c.1100_1103del (p.Ser367fs)	rs2113810185
NM_001288705.3(CSF1R):c.1276del (p.Gln426fs)	rs2113809084
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)	rs917027829
NM_001288705.3(CSF1R):c.161dup (p.Ser55fs)	rs753211296
NM_001288705.3(CSF1R):c.173G>A (p.Trp58Ter)	rs2481049607
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)	rs1757529135
NM_001288705.3(CSF1R):c.1766G>A (p.Gly589Glu)	rs281860268
NM_001288705.3(CSF1R):c.1876G>T (p.Glu626Ter)	rs1228572300
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys)	rs281860269
NM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter)	rs763029749
NM_001288705.3(CSF1R):c.2056dup (p.Ser686fs)	rs1757419927
NM_001288705.3(CSF1R):c.2117del (p.Lys706fs)	rs2480966732
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp)	rs397515556
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)	rs690016548
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val)	rs587777247
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	rs281860281
NM_001288705.3(CSF1R):c.2370_2377del (p.His790fs)	rs2113779465
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)	rs281860274
NM_001288705.3(CSF1R):c.242_264del (p.Thr81fs)	rs2481049004
NM_001288705.3(CSF1R):c.2491_2492del (p.Val831fs)
NM_001288705.3(CSF1R):c.2539G>A (p.Glu847Lys)	rs2113778102
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr)	rs281860279
NM_001288705.3(CSF1R):c.834C>A (p.Cys278Ter)	rs543585518

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