List of variants reported as pathogenic for Neu-Laxova syndrome by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)	rs587777778	0.00019
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)	rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	rs587777483
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)	rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)	rs587777775
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs)	rs587777776
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu)	rs587777777

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