ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 42
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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.1246C>T (p.Gln416Ter) rs200722918 0.00006
NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter) rs745432268 0.00005
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.2559C>G (p.Tyr853Ter) rs758290860 0.00002
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter) rs397514534 0.00001
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) rs201369986 0.00001
NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs) rs1383399355 0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540 0.00001
NC_000010.10:g.(?_12111033)_(12148415_?)del
NC_000010.10:g.(?_12111033)_(12162887_?)del
NC_000010.10:g.(?_12130965)_(12133703_?)del
NC_000010.10:g.(?_12143021)_(12143200_?)del
NC_000010.10:g.(?_12148225)_(12162887_?)del
NC_000010.10:g.(?_12149888)_(12150034_?)del
NC_000010.10:g.(?_12154879)_(12155083_?)del
NC_000010.10:g.(?_12159652)_(12159774_?)del
NM_018706.7(DHTKD1):c.1409del (p.Gly470fs) rs1281526839
NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)
NM_018706.7(DHTKD1):c.1544del (p.Pro515fs)
NM_018706.7(DHTKD1):c.1565G>A (p.Trp522Ter)
NM_018706.7(DHTKD1):c.1669C>T (p.Gln557Ter)
NM_018706.7(DHTKD1):c.1806_1809del (p.Ser602fs)
NM_018706.7(DHTKD1):c.1879C>T (p.Gln627Ter)
NM_018706.7(DHTKD1):c.1967del (p.Lys656fs)
NM_018706.7(DHTKD1):c.199_203del (p.His66_Gly67insTer)
NM_018706.7(DHTKD1):c.1A>G (p.Met1Val) rs1564385081
NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)
NM_018706.7(DHTKD1):c.2235T>G (p.Tyr745Ter)
NM_018706.7(DHTKD1):c.2347del (p.Ala783fs)
NM_018706.7(DHTKD1):c.2401A>T (p.Lys801Ter)
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_018706.7(DHTKD1):c.2461_2462del (p.Glu821fs) rs2131629002
NM_018706.7(DHTKD1):c.331del (p.Glu111fs)
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) rs1554791360
NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)
NM_018706.7(DHTKD1):c.669del (p.His223fs)
NM_018706.7(DHTKD1):c.703C>T (p.Gln235Ter)
NM_018706.7(DHTKD1):c.736C>T (p.Arg246Ter) rs780313786
NM_018706.7(DHTKD1):c.748del (p.Glu250fs) rs1564391327
NM_018706.7(DHTKD1):c.967dup (p.Asp323fs)

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