List of variants in gene PSAT1 reported as benign for inborn disorder of serine family metabolism

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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: 16

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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.348G>A (p.Lys116=)	rs41277897	0.00971
NM_058179.4(PSAT1):c.*251C>T	rs76966550	0.00717
NM_058179.4(PSAT1):c.696G>A (p.Val232=)	rs140331840	0.00097
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=)	rs115639310	0.00047
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)	rs145496413	0.00024
NM_058179.4(PSAT1):c.122-17T>C	rs3739471	0.00021
NM_058179.4(PSAT1):c.1008-11G>T	rs200199574	0.00013
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=)	rs116103106	0.00009
NM_058179.4(PSAT1):c.571-4dup	rs536197677
NM_058179.4(PSAT1):c.869+17dup	rs2118682102

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