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: 21
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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.115G>A (p.Glu39Lys) rs757691933 0.00002
NM_018706.7(DHTKD1):c.154+19G>A rs767736649 0.00002
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=) rs766251442 0.00001
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg) rs1277649888 0.00001
NM_018706.7(DHTKD1):c.154+20C>A rs1183216028 0.00001
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=) rs1195184698
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr) rs2131342394
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)
NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)

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