List of variants reported as pathogenic for Neu-laxova syndrome 2

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Total variants: 5

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HGVS	dbSNP
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs)	rs587777776
NM_058179.4(PSAT1):c.178del (p.Val60fs)	rs1564012541
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)	rs587777778
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter)	rs1008314756
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu)	rs587777777

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