ClinVar Miner

List of variants in gene PCDH18 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019035.5(PCDH18):c.3214C>T (p.Pro1072Ser) rs138873003 0.00034
NM_019035.5(PCDH18):c.560G>A (p.Arg187Gln) rs140746327 0.00024
NM_019035.5(PCDH18):c.3134A>G (p.Lys1045Arg) rs143791559 0.00023
NM_019035.5(PCDH18):c.2021G>A (p.Cys674Tyr) rs138695011 0.00022
NM_019035.5(PCDH18):c.2153T>C (p.Val718Ala) rs143055456 0.00021
NM_019035.5(PCDH18):c.27C>A (p.His9Gln) rs201444340 0.00014
NM_019035.5(PCDH18):c.1951G>A (p.Glu651Lys) rs141226164 0.00010
NM_019035.5(PCDH18):c.2284G>T (p.Val762Leu) rs145372776 0.00009
NM_019035.5(PCDH18):c.463C>T (p.Arg155Cys) rs370360358 0.00007
NM_019035.5(PCDH18):c.1288G>C (p.Glu430Gln) rs183666749 0.00006
NM_019035.5(PCDH18):c.2709C>A (p.Asp903Glu) rs749966833 0.00005
NM_019035.5(PCDH18):c.3329A>G (p.Asp1110Gly) rs368981762 0.00005
NM_019035.5(PCDH18):c.1030G>A (p.Val344Ile) rs369548290 0.00003
NM_019035.5(PCDH18):c.2434C>A (p.His812Asn) rs777065171 0.00003
NM_019035.5(PCDH18):c.2696A>C (p.Glu899Ala) rs751277477 0.00003
NM_019035.5(PCDH18):c.2807T>C (p.Leu936Pro) rs1177466466 0.00003
NM_019035.5(PCDH18):c.3143G>C (p.Gly1048Ala) rs372447567 0.00003
NM_019035.5(PCDH18):c.2176C>T (p.Arg726Cys) rs745658261 0.00002
NM_019035.5(PCDH18):c.605G>A (p.Arg202Lys) rs778135013 0.00002
NM_019035.5(PCDH18):c.2066C>G (p.Thr689Ser) rs1731612022 0.00001
NM_019035.5(PCDH18):c.2254C>T (p.Arg752Trp) rs141406870 0.00001
NM_019035.5(PCDH18):c.2308C>T (p.Pro770Ser) rs763469963 0.00001
NM_019035.5(PCDH18):c.239A>C (p.Asn80Thr) rs1214123904 0.00001
NM_019035.5(PCDH18):c.2458G>C (p.Glu820Gln) rs749095485 0.00001
NM_019035.5(PCDH18):c.2488C>A (p.Gln830Lys) rs757866837 0.00001
NM_019035.5(PCDH18):c.2851G>T (p.Gly951Trp) rs1230357753 0.00001
NM_019035.5(PCDH18):c.3098A>G (p.Asn1033Ser) rs766934255 0.00001
NM_019035.5(PCDH18):c.3161C>T (p.Ala1054Val) rs564865274 0.00001
NM_019035.5(PCDH18):c.3217C>T (p.Leu1073Phe) rs1207963575 0.00001
NM_019035.5(PCDH18):c.3336A>T (p.Lys1112Asn) rs376593359 0.00001
NM_019035.5(PCDH18):c.3359A>G (p.Glu1120Gly) rs1335327431 0.00001
NM_019035.5(PCDH18):c.3361C>G (p.Leu1121Val) rs371922496 0.00001
NM_019035.5(PCDH18):c.379G>A (p.Val127Met) rs1469518213 0.00001
NM_019035.5(PCDH18):c.1079C>A (p.Ser360Tyr) rs201149458
NM_019035.5(PCDH18):c.1144G>A (p.Val382Ile)
NM_019035.5(PCDH18):c.1204C>T (p.His402Tyr)
NM_019035.5(PCDH18):c.1248A>C (p.Leu416Phe) rs1259601786
NM_019035.5(PCDH18):c.1274G>C (p.Arg425Thr)
NM_019035.5(PCDH18):c.1312G>A (p.Glu438Lys)
NM_019035.5(PCDH18):c.131T>C (p.Ile44Thr)
NM_019035.5(PCDH18):c.1357G>C (p.Val453Leu) rs2530773969
NM_019035.5(PCDH18):c.1508C>T (p.Thr503Ile)
NM_019035.5(PCDH18):c.1600G>C (p.Asp534His)
NM_019035.5(PCDH18):c.164T>C (p.Leu55Ser)
NM_019035.5(PCDH18):c.1696A>G (p.Ile566Val) rs149770317
NM_019035.5(PCDH18):c.1699A>G (p.Ile567Val) rs2530772272
NM_019035.5(PCDH18):c.1706A>G (p.Glu569Gly)
NM_019035.5(PCDH18):c.1717G>C (p.Val573Leu)
NM_019035.5(PCDH18):c.1807A>T (p.Ile603Leu) rs2530771815
NM_019035.5(PCDH18):c.1856C>T (p.Ala619Val) rs2530771641
NM_019035.5(PCDH18):c.188C>T (p.Thr63Ile) rs533008854
NM_019035.5(PCDH18):c.1939G>C (p.Val647Leu)
NM_019035.5(PCDH18):c.194G>A (p.Arg65Gln) rs1369441294
NM_019035.5(PCDH18):c.1954T>C (p.Trp652Arg) rs774265200
NM_019035.5(PCDH18):c.1956G>C (p.Trp652Cys)
NM_019035.5(PCDH18):c.1976A>G (p.Gln659Arg) rs2530771087
NM_019035.5(PCDH18):c.1991C>T (p.Pro664Leu)
NM_019035.5(PCDH18):c.2098A>G (p.Met700Val)
NM_019035.5(PCDH18):c.2141T>C (p.Leu714Pro) rs2530770353
NM_019035.5(PCDH18):c.2174A>T (p.Asn725Ile)
NM_019035.5(PCDH18):c.2194A>G (p.Arg732Gly)
NM_019035.5(PCDH18):c.2227T>C (p.Tyr743His) rs2530769904
NM_019035.5(PCDH18):c.2332T>A (p.Ser778Thr)
NM_019035.5(PCDH18):c.2435A>G (p.His812Arg) rs768431812
NM_019035.5(PCDH18):c.2451C>G (p.Phe817Leu)
NM_019035.5(PCDH18):c.2461C>T (p.Leu821Phe) rs1369794301
NM_019035.5(PCDH18):c.2509A>G (p.Met837Val)
NM_019035.5(PCDH18):c.2540C>T (p.Pro847Leu) rs2530766324
NM_019035.5(PCDH18):c.2566A>T (p.Arg856Trp)
NM_019035.5(PCDH18):c.257T>C (p.Ile86Thr) rs2530778104
NM_019035.5(PCDH18):c.2599A>C (p.Lys867Gln) rs1731548364
NM_019035.5(PCDH18):c.2611A>C (p.Lys871Gln)
NM_019035.5(PCDH18):c.2666G>A (p.Arg889Gln)
NM_019035.5(PCDH18):c.271A>G (p.Thr91Ala) rs761119644
NM_019035.5(PCDH18):c.277G>A (p.Asp93Asn)
NM_019035.5(PCDH18):c.2824G>A (p.Asp942Asn)
NM_019035.5(PCDH18):c.3024G>A (p.Met1008Ile) rs2530747983
NM_019035.5(PCDH18):c.3101C>A (p.Ser1034Tyr)
NM_019035.5(PCDH18):c.3142G>T (p.Gly1048Cys) rs1731288238
NM_019035.5(PCDH18):c.3143G>A (p.Gly1048Asp) rs372447567
NM_019035.5(PCDH18):c.3154G>C (p.Gly1052Arg) rs148983038
NM_019035.5(PCDH18):c.3163G>T (p.Ala1055Ser)
NM_019035.5(PCDH18):c.3326A>G (p.Asn1109Ser)
NM_019035.5(PCDH18):c.398A>G (p.Asn133Ser)
NM_019035.5(PCDH18):c.435G>T (p.Glu145Asp) rs148843120
NM_019035.5(PCDH18):c.536A>G (p.Asn179Ser) rs200397073
NM_019035.5(PCDH18):c.571G>C (p.Asp191His)
NM_019035.5(PCDH18):c.599T>C (p.Val200Ala) rs1430354257
NM_019035.5(PCDH18):c.634T>C (p.Tyr212His)
NM_019035.5(PCDH18):c.694C>A (p.Leu232Ile)
NM_019035.5(PCDH18):c.781G>A (p.Val261Ile)
NM_019035.5(PCDH18):c.965T>C (p.Ile322Thr)

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.