ClinVar Miner

List of variants in gene PCNT reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.3853C>T (p.Arg1285Cys) rs150564059 0.00026
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) rs375312732 0.00017
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) rs548287016 0.00016
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) rs369038814 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 0.00014
NM_006031.6(PCNT):c.776C>T (p.Thr259Met) rs141575204 0.00014
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615 0.00011
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616 0.00011
NM_006031.6(PCNT):c.4442T>C (p.Met1481Thr) rs376604964 0.00009
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) rs779546932 0.00009
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047 0.00008
NM_006031.6(PCNT):c.6887C>T (p.Pro2296Leu) rs199844366 0.00008
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611 0.00007
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558 0.00007
NM_006031.6(PCNT):c.6922-4A>G rs587784317 0.00005
NM_006031.6(PCNT):c.7577C>G (p.Ala2526Gly) rs746987536 0.00005
NM_006031.6(PCNT):c.8209C>T (p.Arg2737Trp) rs369377623 0.00005
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) rs768518510 0.00004
NM_006031.6(PCNT):c.7690+3G>C rs955395192 0.00004
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser) rs371296160 0.00003
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) rs756261885 0.00003
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) rs572123043 0.00003
NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys) rs750239503 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544 0.00001
NM_006031.6(PCNT):c.9842C>T (p.Ala3281Val) rs988693930 0.00001
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.3086C>G (p.Ser1029Cys)
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4477G>A (p.Glu1493Lys)
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup) rs1555945598
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp) rs151138182
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup) rs2147680118
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser)
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA rs59957960
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr) rs1415348820
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn)
NM_006031.6(PCNT):c.7727G>A (p.Cys2576Tyr) rs2147962858
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val)
NM_006031.6(PCNT):c.8398C>G (p.Arg2800Gly) rs142608069
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys)
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs)
NM_006031.6(PCNT):c.9839+6T>C
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) rs752708321
NM_006031.6(PCNT):c.9905C>T (p.Ser3302Phe) rs2148140916

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.