ClinVar Miner

List of variants reported as pathogenic for Neu-Laxova syndrome 2 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777

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