ClinVar Miner

List of variants in gene PEX16 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_004813.4(PEX16):c.*175C>A rs375099703 0.00055
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_004813.4(PEX16):c.887+9C>A rs370590743 0.00026
NM_004813.4(PEX16):c.999C>T (p.Tyr333=) rs146657010 0.00016
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004813.4(PEX16):c.960C>T (p.Leu320=) rs370792374 0.00009
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_004813.4(PEX16):c.423C>T (p.Ile141=) rs754277134 0.00006
NM_004813.4(PEX16):c.186C>T (p.Asp62=) rs757594159 0.00004
NM_004813.4(PEX16):c.252A>G (p.Thr84=) rs367893667 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004813.4(PEX16):c.113-4C>T rs199760503 0.00003
NM_004813.4(PEX16):c.888-7C>T rs890395851 0.00003
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln) rs376763841 0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=) rs200415017 0.00002
NM_004813.4(PEX16):c.148+7C>T rs1001236613 0.00001
NM_004813.4(PEX16):c.360-8C>T rs1285530111 0.00001
NM_004813.4(PEX16):c.444C>G (p.Thr148=) rs1278944049 0.00001
NM_004813.4(PEX16):c.492G>C (p.Gln164His) rs773347735 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.*123A>G
NM_004813.4(PEX16):c.*170G>A
NM_004813.4(PEX16):c.*1C>T
NM_004813.4(PEX16):c.*78G>A
NM_004813.4(PEX16):c.113-10C>T rs1414680049
NM_004813.4(PEX16):c.113-11C>T rs550316466
NM_004813.4(PEX16):c.303C>A (p.Ala101=) rs80275010
NM_004813.4(PEX16):c.339C>T (p.Ile113=)
NM_004813.4(PEX16):c.359+20A>G rs886038553
NM_004813.4(PEX16):c.542C>T (p.Thr181Met)
NM_004813.4(PEX16):c.620G>C (p.Ser207Thr)
NM_004813.4(PEX16):c.681G>A (p.Arg227=)
NM_004813.4(PEX16):c.684G>C (p.Pro228=)
NM_004813.4(PEX16):c.771G>A (p.Leu257=)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.888-4C>G
NM_004813.4(PEX16):c.953-8C>T

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.