List of variants in gene PPT1 reported as likely benign for not provided

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: 36

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HGVS	dbSNP	gnomAD frequency
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.537-253C>T	rs60246759	0.00986
NM_000310.4(PPT1):c.434-290T>G	rs114162312	0.00763
NM_000310.4(PPT1):c.536+25T>C	rs16826876	0.00744
NM_000310.4(PPT1):c.363-18C>G	rs143235344	0.00531
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.363-4G>A	rs117284255	0.00318
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.904A>G (p.Ile302Val)	rs146902902	0.00091
NM_000310.4(PPT1):c.799-19A>C	rs367820578	0.00046
NM_000310.4(PPT1):c.657G>C (p.Leu219=)	rs773591614	0.00011
NM_000310.4(PPT1):c.363-5C>T	rs112553480	0.00009
NM_000310.4(PPT1):c.362+4C>T	rs534592472	0.00005
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.237C>T (p.Asp79=)	rs373867152	0.00002
NM_000310.4(PPT1):c.255C>T (p.Phe85=)	rs563017334	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.177G>A (p.Glu59=)	rs1322148659	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+164dup	rs11308805
NM_000310.4(PPT1):c.537-16_537-10dup	rs760997725
NM_000310.4(PPT1):c.537-8del	rs760997725
NM_000310.4(PPT1):c.627+4A>G	rs572153728
NM_000310.4(PPT1):c.628-163del	rs151295763
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

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