List of variants in gene PSAT1 reported as benign for PSAT deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_058179.4(PSAT1):c.-12G>C	rs2277148	0.80020
NM_058179.4(PSAT1):c.570+44G>T	rs944513	0.77720
NM_058179.4(PSAT1):c.741-18T>A	rs3780194	0.74689
NM_058179.4(PSAT1):c.297T>G (p.Ala99=)	rs3739474	0.62693
NM_058179.4(PSAT1):c.*422C>T	rs10867185	0.12240
NM_058179.4(PSAT1):c.*252G>C	rs17064358	0.02208
NM_058179.4(PSAT1):c.*251C>T	rs76966550	0.00717
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=)	rs115639310	0.00047

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