ClinVar Miner

List of variants in gene PSAT1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_058179.4(PSAT1):c.*219A>G
NM_058179.4(PSAT1):c.*241C>A rs1057515673
NM_058179.4(PSAT1):c.*252G>A
NM_058179.4(PSAT1):c.*293A>G
NM_058179.4(PSAT1):c.*378T>C
NM_058179.4(PSAT1):c.*496A>G
NM_058179.4(PSAT1):c.*498C>T
NM_058179.4(PSAT1):c.*554G>A
NM_058179.4(PSAT1):c.*664A>G rs41277903
NM_058179.4(PSAT1):c.*670T>G rs143748888
NM_058179.4(PSAT1):c.*719G>A
NM_058179.4(PSAT1):c.*789A>G rs1057515674
NM_058179.4(PSAT1):c.*836A>G rs41277905
NM_058179.4(PSAT1):c.*939C>T
NM_058179.4(PSAT1):c.-26T>G
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp)
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=)
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp)
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala)
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) rs756701004
NM_058179.4(PSAT1):c.231A>T (p.Gly77=)
NM_058179.4(PSAT1):c.270C>T (p.Leu90=)
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val)
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.398-14G>A rs202026355
NM_058179.4(PSAT1):c.398-7G>A
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn)
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) rs763694865
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.61-2A>G rs1564012047
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln)
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)
NM_058179.4(PSAT1):c.706A>C (p.Asn236His)
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905

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