List of variants reported as likely pathogenic for Aspartylglucosaminuria by Counsyl

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)	rs765070743	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.1A>G (p.Met1Val)	rs1054938291	0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)	rs745976989	0.00001
NM_000027.4(AGA):c.508-2A>G	rs986682657	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs)	rs764598121	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_000027.4(AGA):c.127+1G>A	rs1057516565
NM_000027.4(AGA):c.192del (p.Cys64fs)	rs1553994830
NM_000027.4(AGA):c.200_201del (p.Glu67fs)	rs386833420
NM_000027.4(AGA):c.281+1G>T	rs1553994812
NM_000027.4(AGA):c.28del (p.Leu10fs)	rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)	rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.333del (p.Ile112fs)	rs1057517223
NM_000027.4(AGA):c.376del (p.Leu126fs)	rs1553994755
NM_000027.4(AGA):c.3G>C (p.Met1Ile)	rs937973897
NM_000027.4(AGA):c.490C>T (p.Gln164Ter)	rs1057517329
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)	rs748171793
NM_000027.4(AGA):c.623-2A>G	rs1483909684
NM_000027.4(AGA):c.698+1G>T	rs1057517175
NM_000027.4(AGA):c.70del (p.Ser24fs)	rs1057517239
NM_000027.4(AGA):c.940+1G>A	rs386833437
NM_000027.4(AGA):c.941-2A>G	rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)	rs1201784742

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