ClinVar Miner

List of variants studied for Aspartylglucosaminuria by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906

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