List of variants reported as pathogenic for PSAT deficiency

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)	rs369944396	0.00003
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)	rs118203967	0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)	rs774962204	0.00001
NM_058179.4(PSAT1):c.107del (p.Gly36fs)	rs587777747
NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg)	rs1828113460
NM_058179.4(PSAT1):c.432del (p.Asp145fs)	rs1554686365
NM_058179.4(PSAT1):c.44C>T (p.Ala15Val)	rs1554685353

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