ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 25
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HGVS dbSNP
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) rs775726256
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) rs370268538
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) rs200962308
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) rs184256039
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905

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