List of variants in gene PPT1 reported as uncertain significance by Natera, Inc.

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: 51

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HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)	rs142894102	0.00010
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys)	rs200813294	0.00008
NM_000310.4(PPT1):c.*6G>A	rs113082671	0.00006
NM_000310.4(PPT1):c.17G>A (p.Cys6Tyr)	rs202241486	0.00006
NM_000310.4(PPT1):c.362+4C>T	rs534592472	0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000310.4(PPT1):c.856G>A (p.Glu286Lys)	rs141405110	0.00005
NM_000310.4(PPT1):c.234+7C>T	rs200777536	0.00004
NM_000310.4(PPT1):c.586C>T (p.Arg196Cys)	rs376715840	0.00004
NM_000310.4(PPT1):c.-10C>T	rs761610817	0.00003
NM_000310.4(PPT1):c.199G>A (p.Val67Ile)	rs149945902	0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=)	rs753828114	0.00003
NM_000310.4(PPT1):c.363G>T (p.Leu121=)	rs201820661	0.00003
NM_000310.4(PPT1):c.587G>A (p.Arg196His)	rs939858453	0.00003
NM_000310.4(PPT1):c.676G>A (p.Val226Met)	rs375190067	0.00003
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp)	rs146002450	0.00003
NM_000310.4(PPT1):c.803G>A (p.Arg268His)	rs763536047	0.00003
NM_000310.4(PPT1):c.14G>C (p.Gly5Ala)	rs757580857	0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala)	rs766961054	0.00002
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg)	rs200434104	0.00002
NM_000310.4(PPT1):c.875T>C (p.Leu292Ser)	rs199708990	0.00002
NM_000310.4(PPT1):c.12C>T (p.Pro4=)	rs140289866	0.00001
NM_000310.4(PPT1):c.238G>A (p.Val80Met)	rs370396045	0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.283G>A (p.Val95Met)	rs932228782	0.00001
NM_000310.4(PPT1):c.334A>T (p.Met112Leu)	rs760532726	0.00001
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)	rs755565099	0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)	rs369186379	0.00001
NM_000310.4(PPT1):c.445C>A (p.Leu149Ile)	rs775899980	0.00001
NM_000310.4(PPT1):c.472C>T (p.His158Tyr)	rs754525635	0.00001
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly)	rs775853398	0.00001
NM_000310.4(PPT1):c.512C>T (p.Ala171Val)	rs761687224	0.00001
NM_000310.4(PPT1):c.536G>A (p.Arg179His)	rs370069880	0.00001
NM_000310.4(PPT1):c.647A>G (p.Lys216Arg)	rs1296750828	0.00001
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser)	rs768490419	0.00001
NM_000310.4(PPT1):c.71T>C (p.Leu24Pro)	rs746667989	0.00001
NM_000310.4(PPT1):c.769C>A (p.Pro257Thr)	rs201313087	0.00001
NM_000310.4(PPT1):c.817G>A (p.Glu273Lys)	rs1193191643	0.00001
NM_000310.4(PPT1):c.86C>A (p.Pro29Gln)	rs778256566	0.00001
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro)	rs1304668396	0.00001
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)	rs1270614783	0.00001
NM_000310.4(PPT1):c.147A>C (p.Leu49Phe)	rs781048683
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp)	rs1649599567
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser)	rs369186379
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu)	rs1649436304
NM_000310.4(PPT1):c.574G>A (p.Glu192Lys)	rs1557708202
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro)	rs1649904164
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu)	rs1228014012
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)	rs374154128
NM_000310.4(PPT1):c.896C>T (p.Ala299Val)	rs768943497
NM_000310.4(PPT1):c.910T>C (p.Phe304Leu)	rs1557704819

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