ClinVar Miner

List of variants in gene PSAT1 reported as pathogenic for Neu-Laxova syndrome 2

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Total variants: 25
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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.420G>A (p.Trp140Ter) rs1008314756 0.00010
NM_058179.4(PSAT1):c.870-1G>T rs376824714 0.00003
NM_058179.4(PSAT1):c.664C>T (p.Arg222Ter) rs765723196 0.00002
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NC_000009.11:g.(?_80912127)_(80923519_?)del
NC_000009.11:g.(?_80915498)_(80916959_?)del
NC_000009.11:g.(?_80919631)_(80923519_?)del
NC_000009.11:g.(?_80921210)_(80923519_?)del
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.107del (p.Gly36fs) rs587777747
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.228del (p.Gly77fs)
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.357del (p.Thr120fs)
NM_058179.4(PSAT1):c.413del (p.Ser138fs)
NM_058179.4(PSAT1):c.444C>G (p.Tyr148Ter) rs148598272
NM_058179.4(PSAT1):c.510_514del (p.Ala171fs)
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)
NM_058179.4(PSAT1):c.770G>A (p.Trp257Ter)
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)
NM_058179.4(PSAT1):c.838G>T (p.Glu280Ter) rs2118681775
NM_058179.4(PSAT1):c.892A>T (p.Arg298Ter)
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)

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