ClinVar Miner

List of variants in gene PPT1 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.125-77G>C rs4481840 0.99450
NM_000310.4(PPT1):c.433+79A>G rs3122439 0.99388
NM_000310.3(PPT1):c.-83A>G rs6600313 0.84142
NM_000310.4(PPT1):c.627+105A>C rs3122428 0.73832
NM_000310.4(PPT1):c.*657G>A rs1126973 0.70258
NM_000310.4(PPT1):c.*285T>G rs1126970 0.69809
NM_000310.4(PPT1):c.*505C>G rs1126972 0.69788
NM_000310.4(PPT1):c.*526_*529dup rs397730033 0.65899
NM_000310.4(PPT1):c.362+61C>T rs6672053 0.64379
NM_000310.4(PPT1):c.*161T>C rs11552578 0.11358
NM_000310.3(PPT1):c.-109C>A rs41301070 0.08852
NM_000310.4(PPT1):c.537-50G>A rs77623018 0.05512
NM_000310.4(PPT1):c.434-90G>C rs6689837 0.05108
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000310.4(PPT1):c.*1275G>A rs12061777 0.03316
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_000310.4(PPT1):c.*456A>G rs76250039 0.01107
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000310.4(PPT1):c.*878T>C rs74638149 0.00721
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly) rs749909390 0.00024
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000310.4(PPT1):c.627+16G>A rs745468692 0.00004
NM_000310.4(PPT1):c.537-16dup rs760997725
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000310.4(PPT1):c.727-10T>G rs554894547

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