ClinVar Miner

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

Included ClinVar conditions (149):
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_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)

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