ClinVar Miner

List of variants in gene EXOSC8 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) rs606231285
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075

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