ClinVar Miner

List of variants in gene DHTKD1 reported as likely pathogenic for 2-aminoadipic 2-oxoadipic aciduria

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540 0.00001
NC_000010.10:g.(?_12126519)_(12131274_?)dup
NC_000010.10:g.(?_12142225)_(12144857_?)del
NC_000010.10:g.(?_12158694)_(12162192_?)del
NM_018706.6(DHTKD1):c.[2143C>T];[2185G>A]
NM_018706.7(DHTKD1):c.1159+1G>A
NM_018706.7(DHTKD1):c.1160-1G>C
NM_018706.7(DHTKD1):c.1756+1G>C
NM_018706.7(DHTKD1):c.1756+2T>C
NM_018706.7(DHTKD1):c.1859del (p.Leu620fs) rs2131616447
NM_018706.7(DHTKD1):c.2154_2154+1insT rs1588616299
NM_018706.7(DHTKD1):c.2320-2A>T
NM_018706.7(DHTKD1):c.2402+1G>A
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_018706.7(DHTKD1):c.2572+1G>A
NM_018706.7(DHTKD1):c.310+2T>C

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