ClinVar Miner

List of variants in gene DHTKD1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=) rs12769375 0.01095
NM_018706.7(DHTKD1):c.987+10G>C rs142511121 0.00643
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp) rs34716552 0.00493
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala) rs147571909 0.00424
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser) rs146741810 0.00249
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=) rs142017323 0.00142
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=) rs181104203 0.00057
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=) rs199768968 0.00025
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala) rs762777348 0.00004
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=) rs556079764 0.00004
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser) rs764415717 0.00002
NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys) rs754487112 0.00001
NM_018706.7(DHTKD1):c.387G>A (p.Gln129=) rs1832871596 0.00001
NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser) rs1374451398 0.00001
NM_018706.7(DHTKD1):c.2047+16T>C rs1833248223
NM_018706.7(DHTKD1):c.2374A>G (p.Ile792Val)
NM_018706.7(DHTKD1):c.2573-13T>G rs2131630525
NM_018706.7(DHTKD1):c.2612C>T (p.Pro871Leu)
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786

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