ClinVar Miner

List of variants in gene DHTKD1, LOC130003343 studied for 2-aminoadipic 2-oxoadipic aciduria

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) rs753355529 0.00006
NM_018706.7(DHTKD1):c.154+8A>G rs1244171680 0.00003
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=) rs766251442 0.00002
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys) rs757691933 0.00002
NM_018706.7(DHTKD1):c.154+19G>A rs767736649 0.00002
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=) rs1181862134 0.00001
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg) rs1277649888 0.00001
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala) rs563631393 0.00001
NM_018706.7(DHTKD1):c.154+15C>T rs933717804 0.00001
NM_018706.7(DHTKD1):c.154+20C>A rs1183216028 0.00001
NM_018706.7(DHTKD1):c.154+6G>T rs1832611987 0.00001
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=) rs1195184698
NM_018706.7(DHTKD1):c.105G>A (p.Pro35=)
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg) rs747745404
NM_018706.7(DHTKD1):c.115G>C (p.Glu39Gln)
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly) rs1426707768
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys) rs2491445844
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr) rs2131342394
NM_018706.7(DHTKD1):c.138C>T (p.Ala46=)
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln) rs768842115
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=) rs2491445944
NM_018706.7(DHTKD1):c.154+18G>A rs1832612148
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile) rs543147905
NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs) rs779758367

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