ClinVar Miner

List of variants in gene CHM studied for choroideremia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.315-1543T>C rs12835678 0.27812
NM_000390.4(CHM):c.315-1541C>A rs10217834 0.17278
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01253
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) rs145877269 0.00962
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) rs55741408 0.00895
NM_000390.4(CHM):c.1641G>T (p.Leu547=) rs148301015 0.00132
NM_000390.4(CHM):c.825G>A (p.Pro275=) rs145268507 0.00132
NM_000390.4(CHM):c.1620A>G (p.Gln540=) rs140479582 0.00057
NM_000390.4(CHM):c.205G>C (p.Val69Leu) rs145088557 0.00056
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000390.4(CHM):c.1349+10C>T rs376129971 0.00050
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) rs138374611 0.00042
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) rs149255670 0.00035
NM_000390.4(CHM):c.1380T>C (p.Asp460=) rs138395490 0.00024
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) rs140093046 0.00015
NM_000390.4(CHM):c.1713C>T (p.Asn571=) rs142340268 0.00012
NM_000390.4(CHM):c.1771-4C>T rs376625115 0.00009
NM_000390.4(CHM):c.498G>A (p.Ala166=) rs779055829 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000390.4(CHM):c.10A>G (p.Thr4Ala) rs746300399 0.00004
NM_000390.4(CHM):c.182A>C (p.Glu61Ala) rs372819339 0.00004
NM_000390.4(CHM):c.189+5A>G rs757833413 0.00003
NM_000390.4(CHM):c.582A>G (p.Glu194=) rs1444964030 0.00003
NM_000390.4(CHM):c.619A>G (p.Thr207Ala) rs374880482 0.00003
NM_000390.4(CHM):c.1008T>C (p.Ile336=) rs749991144 0.00002
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr) rs754257889 0.00002
NM_000390.4(CHM):c.127T>C (p.Tyr43His) rs780259893 0.00001
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.4(CHM):c.1574A>G (p.Gln525Arg) rs1309166998 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000390.4(CHM):c.1648C>G (p.Leu550Val) rs186479811 0.00001
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) rs143212912 0.00001
NM_000390.4(CHM):c.1782T>C (p.Leu594=) rs781107287 0.00001
NM_000390.4(CHM):c.1893A>G (p.Ile631Met) rs778210722 0.00001
NM_000390.4(CHM):c.1929A>C (p.Thr643=) rs747278560 0.00001
NM_000390.4(CHM):c.502G>C (p.Glu168Gln) rs1023827317 0.00001
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) rs150754372 0.00001
NC_000023.11:g.86041956_86048370inv
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1166+1G>C rs2147662906
NM_000390.4(CHM):c.1168_1244+1del
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1245-8_1245-6del rs766694606
NM_000390.4(CHM):c.1275G>C (p.Gln425His) rs763252149
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1402del (p.Ser468fs)
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) rs1603234322
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.1714G>A (p.Val572Ile) rs2148120495
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.1920G>A (p.Lys640=) rs748006115
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln) rs1168750683
NM_000390.4(CHM):c.1A>G (p.Met1Val) rs1057516265
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.280del (p.Thr94fs) rs1555958073
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter) rs897855683
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.539del (p.Asn180fs) rs1930424354
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.591T>C (p.Ser197=) rs1429958944
NM_000390.4(CHM):c.5C>T (p.Ala2Val) rs1185313651
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.6G>T (p.Ala2=) rs773939161
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.82_83del (p.Ser28fs)
NM_000390.4(CHM):c.83C>G (p.Ser28Ter) rs2147791162
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.926C>T (p.Pro309Leu) rs1930084200
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)

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.