ClinVar Miner

List of variants studied for NAD(P)HX dehydratase deficiency by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001242882.2(NAXD):c.923G>A (p.Arg308His) rs199883055 0.00001
NM_001242882.2(NAXD):c.181G>C (p.Val61Leu) rs770832128
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile) rs1886017898

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