List of variants in gene AGA reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)	rs386833428	0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	rs386833431	0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)	rs386833430	0.00002
NM_000027.4(AGA):c.395-8A>G	rs386833426	0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)	rs386833427	0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)	rs386833434	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)	rs386833419
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)	rs386833421
NM_000027.4(AGA):c.336del (p.Ile112fs)	rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.369_373del (p.His124fs)	rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs)	rs386833425
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)	rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	rs386833433
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)	rs386833435

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