List of variants in gene NAXD reported as uncertain significance for NAD(P)HX dehydratase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu)	rs137876156	0.00106
NM_001242882.2(NAXD):c.671C>T (p.Thr224Met)	rs149297756	0.00021
NM_001242882.2(NAXD):c.862G>A (p.Ala288Thr)	rs372208357	0.00001
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.269G>T (p.Cys90Phe)
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	rs1886017898
NM_001242882.2(NAXD):c.591C>G (p.Asp197Glu)	rs559466039
NM_001242882.2(NAXD):c.704C>T (p.Ser235Phe)
NM_001242882.2(NAXD):c.736G>A (p.Glu246Lys)	rs2501710087
NM_001242882.2(NAXD):c.848del (p.Pro283fs)

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