List of variants in gene JMJD8, STUB1 studied for cerebellar degeneration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.642T>C (p.Leu214=)	rs79687861	0.01123
NM_005861.4(STUB1):c.778dup (p.His260fs)	rs780883873	0.00002
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)	rs1395191127	0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	rs748984540	0.00001
NM_001005920.4(JMJD8):c.*506del	rs3216838
NM_005861.4(STUB1):c.525-1G>A	rs2151505158
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.721C>T (p.Arg241Trp)	rs760424025
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
NM_005861.4(STUB1):c.746G>T (p.Gly249Val)	rs2151506587
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)	rs770730338
NM_005861.4(STUB1):c.791_792del (p.Val264fs)	rs1732133553
NM_005861.4(STUB1):c.807dup (p.Val270fs)	rs2151507049
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)	rs2039704195
NM_005861.4(STUB1):c.823dup (p.Leu275fs)	rs2039704361
NM_005861.4(STUB1):c.876_887del (p.Phe293_Glu296del)

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