ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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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.719T>C (p.Met240Thr) rs587777345 0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs) rs748984540 0.00001
NM_001005920.4(JMJD8):c.*1009T>C rs2151505130
NM_001005920.4(JMJD8):c.*506del rs3216838
NM_001005920.4(JMJD8):c.*65A>G rs1555475794
NM_001005920.4(JMJD8):c.*903G>C rs1567281056
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435
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.694_699del (p.Cys232_Gly233del) rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) rs760424025
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp) rs760424025
NM_005861.4(STUB1):c.728C>T (p.Pro243Leu)
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
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.779A>C (p.His260Pro) rs2151506687
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)
NM_005861.4(STUB1):c.885dup (p.Glu296Ter) rs1567283195

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