List of variants in gene EXOSC3 reported as likely pathogenic for anterior horn disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	rs374550999	0.00093
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)	rs797045567	0.00001
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)	rs1296865764
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)	rs2118977758
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)	rs1160669103
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)	rs672601332

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