ClinVar Miner

List of variants in gene PTS reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.243+2T>C rs759363496 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.315-1G>C rs776543880 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NM_000317.3(PTS):c.379C>G (p.Leu127Val) rs1859971515 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000317.3(PTS):c.108C>A (p.Asn36Lys)
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.163+1G>T rs2135408292
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.164-716A>T rs1859903893
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.208del (p.Val70fs)
NM_000317.3(PTS):c.227_228del (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.243+1G>T
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.407A>G (p.Asp136Gly) rs1859972447
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.84-1G>A
NM_000317.3(PTS):c.84-2A>G

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.