ClinVar Miner

List of variants in gene PSAT1 studied for Neu-Laxova syndrome 2

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_058179.3(PSAT1):c.1023_1027delCCGGGinsAGACCT (p.Arg342Aspfs) rs587777776
NM_058179.3(PSAT1):c.178delG (p.Val60Cysfs)
NM_058179.3(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.3(PSAT1):c.348G>A (p.Lys116=) rs41277897
NM_058179.3(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.3(PSAT1):c.395C>G (p.Thr132Arg)
NM_058179.3(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.3(PSAT1):c.916C>T (p.Arg306Cys) rs113824905

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