List of variants reported as likely pathogenic for 2-aminoadipic 2-oxoadipic aciduria by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.1160-1G>C	rs760767010	0.00003
NM_018706.7(DHTKD1):c.2572+1G>A	rs776390640	0.00002
NM_018706.7(DHTKD1):c.2320-2A>T	rs754097253	0.00001
NC_000010.10:g.(?_12126519)_(12131274_?)dup
NC_000010.10:g.(?_12142225)_(12144857_?)del
NC_000010.10:g.(?_12158694)_(12162192_?)del
NM_018706.7(DHTKD1):c.1159+1G>A	rs766647628
NM_018706.7(DHTKD1):c.1671+1G>A
NM_018706.7(DHTKD1):c.1756+1G>A
NM_018706.7(DHTKD1):c.1756+1G>C	rs2491494919
NM_018706.7(DHTKD1):c.1756+2T>C	rs774312036
NM_018706.7(DHTKD1):c.2402+1G>A	rs767066938
NM_018706.7(DHTKD1):c.310+2T>C	rs1364396346

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