List of variants in gene combination JMJD8, STUB1 reported as pathogenic for cerebellar 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_005861.4(STUB1):c.673C>T (p.Arg225Ter)	rs1395191127	0.00001
NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	rs587777345	0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	rs748984540	0.00001
NM_005861.4(STUB1):c.646dup (p.Ser216fs)	rs1555475283
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)	rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)	rs754446573
NM_005861.4(STUB1):c.737C>T (p.Thr246Met)	rs587777343
NM_005861.4(STUB1):c.791_792del (p.Val264fs)	rs1732133553
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)	rs2039704195
NM_005861.4(STUB1):c.823dup (p.Leu275fs)	rs2039704361
NM_005861.4(STUB1):c.885dup (p.Glu296Ter)	rs1567283195

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