ClinVar Miner

List of variants reported as likely benign for Neu-laxova syndrome 2

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Total variants: 6
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NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905

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