ClinVar Miner

List of variants in gene DHX38 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: 7
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HGVS dbSNP gnomAD frequency
NM_014003.4(DHX38):c.2487+14T>C rs42544 0.97480
NM_014003.4(DHX38):c.2380-20T>C rs150617 0.92860
NM_014003.4(DHX38):c.1308T>C (p.Ala436=) rs1050363 0.58097
NM_014003.4(DHX38):c.147C>G (p.Leu49=) rs1050361 0.50708
NM_014003.4(DHX38):c.2316C>A (p.Ala772=) rs2074626 0.46156
NM_014003.4(DHX38):c.1698G>A (p.Thr566=) rs2240243 0.45838
NM_014003.4(DHX38):c.418C>A (p.Arg140=) rs1050362

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