ClinVar Miner

List of variants reported as benign for PSAT deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_058179.4(PSAT1):c.*422C>T rs10867185 0.11667
NM_058179.4(PSAT1):c.*252G>C rs17064358 0.02208
NM_058179.4(PSAT1):c.*251C>T rs76966550 0.00666
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00064

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