ClinVar Miner

List of variants in gene AIMP1 studied for Pelizaeus-Merzbacher-like disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_001142416.2(AIMP1):c.162del (p.Lys54fs) rs750731609
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)
NM_001142416.2(AIMP1):c.223G>C (p.Val75Leu)
NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs) rs387906865
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) rs879253867
NM_001142416.2(AIMP1):c.359A>G (p.Glu120Gly)
NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)
NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del) rs769350799
NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) rs1344482241

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