ClinVar Miner

List of variants reported as benign for PSAT deficiency

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

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