List of variants in gene PPT1 reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.*456A>G	rs76250039	0.01107
NM_000310.4(PPT1):c.537-253C>T	rs60246759	0.00986
NM_000310.4(PPT1):c.434-290T>G	rs114162312	0.00763
NM_000310.3(PPT1):c.-201G>A	rs116091180	0.00428
NM_000310.4(PPT1):c.363-232T>G	rs543535528	0.00377
NM_000310.4(PPT1):c.*708A>C	rs368715899	0.00355
NM_000310.4(PPT1):c.798+224A>G	rs370347634	0.00355
NM_000310.4(PPT1):c.124+325T>C	rs146759503	0.00343
NM_000310.4(PPT1):c.363-106C>T	rs76584099	0.00287
NM_000310.4(PPT1):c.537-248C>T	rs75640220	0.00272
NM_000310.4(PPT1):c.657G>C (p.Leu219=)	rs773591614	0.00011
NM_000310.4(PPT1):c.513G>A (p.Ala171=)	rs150924738	0.00010
NM_000310.4(PPT1):c.363-5C>T	rs112553480	0.00009
NM_000310.4(PPT1):c.198C>T (p.Tyr66=)	rs200035288	0.00004
NM_000310.4(PPT1):c.543G>A (p.Val181=)	rs374121503	0.00004
NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)	rs386833641	0.00003
NM_000310.4(PPT1):c.141T>C (p.Asn47=)	rs756148014	0.00002
NM_000310.4(PPT1):c.237C>T (p.Asp79=)	rs373867152	0.00002
NM_000310.4(PPT1):c.369A>G (p.Ala123=)	rs138951598	0.00002
NM_000310.4(PPT1):c.627+8C>T	rs1427848229	0.00002
NM_000310.4(PPT1):c.726+9C>T	rs1024088820	0.00002
NM_000310.4(PPT1):c.125-5G>A	rs777893002	0.00001
NM_000310.4(PPT1):c.177G>A (p.Glu59=)	rs1322148659	0.00001
NM_000310.4(PPT1):c.234+18T>C	rs372965402	0.00001
NM_000310.4(PPT1):c.288T>C (p.Cys96=)	rs375820734	0.00001
NM_000310.4(PPT1):c.43C>T (p.Leu15=)	rs1057522283	0.00001
NM_000310.4(PPT1):c.627+15C>T	rs566932238	0.00001
NM_000310.4(PPT1):c.639G>A (p.Glu213=)	rs751303272	0.00001
NM_000310.4(PPT1):c.27C>G (p.Leu9=)	rs765173260
NM_000310.4(PPT1):c.362+11T>A	rs1553167465
NM_000310.4(PPT1):c.362+164dup	rs11308805
NM_000310.4(PPT1):c.362+18A>T	rs201717598
NM_000310.4(PPT1):c.390A>G (p.Ser130=)	rs1057522741
NM_000310.4(PPT1):c.433+5C>G	rs1553167414
NM_000310.4(PPT1):c.433+7_433+8del	rs750997143
NM_000310.4(PPT1):c.474C>T (p.His158=)	rs549251715
NM_000310.4(PPT1):c.536+10G>A	rs1293510783
NM_000310.4(PPT1):c.628-163del	rs151295763
NM_000310.4(PPT1):c.798+16T>G	rs1553166332
NM_000310.4(PPT1):c.799-193GAAA[2]	rs199974761
NM_000310.4(PPT1):c.799-288_799-287del	rs540995323
NM_000310.4(PPT1):c.799-290_799-287del	rs540995323

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.