List of variants reported as pathogenic for NAD(P)HX dehydratase deficiency by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	rs767778853	0.00005
NM_001242882.2(NAXD):c.948_949insTT (p.Ala317fs)	rs778824382	0.00003
NC_000013.11:g.110615008_110622534del
NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)
NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser)	rs1566614549
NM_001242882.2(NAXD):c.318C>G (p.Ile106Met)	rs201720770
NM_001242882.2(NAXD):c.44del (p.Arg15fs)	rs1886017689
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	rs1886017898
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	rs773887880
NM_001242882.2(NAXD):c.839+1G>T	rs1566623786

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