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

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001142416.2(AIMP1):c.359A>G (p.Glu120Gly)	rs367813302	0.00020
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)	rs724159969	0.00001
NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)	rs766457850	0.00001
NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)	rs1329842483	0.00001
NM_001142416.2(AIMP1):c.162del (p.Lys54fs)	rs750731609
NM_001142416.2(AIMP1):c.223G>C (p.Val75Leu)	rs569235371
NM_001142416.2(AIMP1):c.267_282del (p.Asn89fs)
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.347del (p.Gly116fs)
NM_001142416.2(AIMP1):c.695C>A (p.Ser232Ter)
NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del)	rs769350799
NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)	rs777246149
NM_001142416.2(AIMP1):c.895G>A (p.Gly299Arg)
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly)	rs1344482241

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