List of variants reported as likely pathogenic for aspartylglucosaminuria by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.301G>A (p.Ala101Thr)	rs752914246	0.00001
NM_000027.4(AGA):c.508-2A>G	rs986682657	0.00001
NM_000027.4(AGA):c.127+1G>A	rs1057516565
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.281+1G>T	rs1553994812
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)	rs386833423
NM_000027.4(AGA):c.698+1G>A	rs1057517175
NM_000027.4(AGA):c.698+2T>C	rs2111013260
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)

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