ClinVar Miner

List of variants in gene DHDDS reported as benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_205861.3(DHDDS):c.*1886C>T rs2290588 0.30150
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) rs3816539 0.30121
NM_024887.3(DHDDS):c.-150G>A rs6656196 0.30080
NM_205861.3(DHDDS):c.*1300G>C rs12096239 0.22507
NM_205861.3(DHDDS):c.*2032C>T rs1055323 0.21078
NM_205861.3(DHDDS):c.324-10C>T rs144459149 0.00308
NM_205861.3(DHDDS):c.542+8G>A rs149948788 0.00060
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_205861.3(DHDDS):c.564T>C (p.Leu188=) rs371976956 0.00016

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