ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 3, susceptibility to

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503 0.98009
NM_012120.3(CD2AP):c.-54T>A rs9349406 0.96104
NM_012120.3(CD2AP):c.*2339T>C rs2152796 0.94798
NM_012120.3(CD2AP):c.*2039T>C rs1043276 0.61813
NM_012120.3(CD2AP):c.-192A>C rs1056434 0.57692
NM_012120.3(CD2AP):c.*496A>G rs9463343 0.45596
NM_012120.3(CD2AP):c.*2759G>A rs719856 0.24576
NM_012120.3(CD2AP):c.*498A>G rs36077218 0.19726
NM_012120.3(CD2AP):c.*500A>G rs35361796 0.19036
NM_012120.3(CD2AP):c.*502A>G rs35274349 0.17025
NM_012120.3(CD2AP):c.1632+8G>T rs77917916 0.01414
NM_012120.3(CD2AP):c.*452C>G rs183129840 0.00945
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_012120.3(CD2AP):c.219A>G (p.Glu73=) rs7749045 0.00843
NM_012120.3(CD2AP):c.*504A>G rs879228960 0.00838
NM_012120.3(CD2AP):c.*2241A>T rs151064033 0.00507
NM_012120.3(CD2AP):c.42T>C (p.His14=) rs34773184 0.00472
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) rs34023453 0.00471
NM_012120.3(CD2AP):c.-297G>C rs9369697 0.00441
NM_012120.3(CD2AP):c.*186A>T rs9381582 0.00392
NM_012120.3(CD2AP):c.*494G>A rs867559785 0.00352
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_012120.3(CD2AP):c.*2355G>A rs141029774 0.00301
NM_012120.3(CD2AP):c.447C>T (p.Thr149=) rs145518596 0.00268
NM_012120.3(CD2AP):c.809-11C>A rs76153148 0.00230
NM_012120.3(CD2AP):c.*160A>G rs112547257 0.00209
NM_012120.3(CD2AP):c.*828G>C rs187393492 0.00197
NM_012120.3(CD2AP):c.*319A>C rs532632702 0.00166
NM_012120.3(CD2AP):c.*1208C>A rs28403574 0.00119
NM_012120.3(CD2AP):c.1014A>G (p.Pro338=) rs150304098 0.00113
NM_012120.3(CD2AP):c.1181C>A (p.Pro394Gln) rs141881558 0.00098
NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val) rs146444716 0.00074
NM_012120.3(CD2AP):c.992T>A (p.Leu331His) rs140188898 0.00074
NM_012120.3(CD2AP):c.1530+12T>G rs201842906 0.00072
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_012120.3(CD2AP):c.-130C>G rs886061516 0.00060
NM_012120.3(CD2AP):c.-267G>A rs532229799 0.00049
NM_012120.3(CD2AP):c.-166A>G rs1003986342 0.00042
NM_012120.3(CD2AP):c.636A>T (p.Arg212=) rs146010044 0.00039
NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser) rs372234258 0.00038
NM_012120.3(CD2AP):c.-197C>T rs886061513 0.00032
NM_012120.3(CD2AP):c.*2470C>A rs376709257 0.00026
NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser) rs142643033 0.00026
NM_012120.3(CD2AP):c.165+13A>G rs368408367 0.00024
NM_012120.3(CD2AP):c.1812C>T (p.His604=) rs140391156 0.00021
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_012120.3(CD2AP):c.*762A>G rs1006749024 0.00019
NM_012120.3(CD2AP):c.-438C>T rs191920077 0.00016
NM_012120.3(CD2AP):c.*492G>A rs866946718 0.00015
NM_012120.3(CD2AP):c.1417+19C>T rs185609509 0.00015
NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile) rs143297472 0.00015
NM_012120.3(CD2AP):c.*2309T>G rs747110506 0.00014
NM_012120.3(CD2AP):c.*1918A>C rs576753032 0.00012
NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly) rs367952819 0.00012
NM_012120.3(CD2AP):c.1641G>A (p.Val547=) rs375173164 0.00011
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) rs142628238 0.00011
NM_012120.3(CD2AP):c.5-20G>A rs3756935 0.00010
NM_012120.3(CD2AP):c.*20C>G rs149303011 0.00009
NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser) rs138163915 0.00009
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) rs141778404 0.00009
NM_012120.3(CD2AP):c.*706A>G rs889531551 0.00007
NM_012120.3(CD2AP):c.*1017T>A rs192279940 0.00006
NM_012120.3(CD2AP):c.1531-15T>A rs200506346 0.00006
NM_012120.3(CD2AP):c.1633-8G>A rs371517849 0.00006
NM_012120.3(CD2AP):c.*866C>T rs886061539 0.00005
NM_012120.3(CD2AP):c.*166A>G rs567422637 0.00004
NM_012120.3(CD2AP):c.*2232C>T rs886061548 0.00004
NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe) rs368150114 0.00004
NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn) rs149246024 0.00004
NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser) rs757507978 0.00004
NM_012120.3(CD2AP):c.*2037C>G rs886061544 0.00003
NM_012120.3(CD2AP):c.*2705A>G rs775329134 0.00003
NM_012120.3(CD2AP):c.*297T>A rs1044619698 0.00003
NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) rs145347609 0.00003
NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser) rs570511925 0.00003
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) rs758523796 0.00002
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012120.3(CD2AP):c.*1927T>G rs886061543 0.00001
NM_012120.3(CD2AP):c.*2445C>T rs886061550 0.00001
NM_012120.3(CD2AP):c.*2548G>A rs748856071 0.00001
NM_012120.3(CD2AP):c.-324G>C rs886061512 0.00001
NM_012120.3(CD2AP):c.1164A>C (p.Pro388=) rs933322359 0.00001
NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala) rs200024855 0.00001
NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg) rs886061518 0.00001
NM_012120.3(CD2AP):c.400A>G (p.Ile134Val) rs747832531 0.00001
NM_012120.3(CD2AP):c.521A>C (p.His174Pro) rs762020246 0.00001
NM_012120.3(CD2AP):c.675G>A (p.Val225=) rs908328150 0.00001
NM_012120.3(CD2AP):c.757A>G (p.Lys253Glu) rs1034978918 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_012120.3(CD2AP):c.846T>C (p.Gly282=) rs931802678 0.00001
NM_012120.3(CD2AP):c.*1606G>A rs886061542
NM_012120.3(CD2AP):c.*1G>A rs1002943996
NM_012120.3(CD2AP):c.*2117C>G rs1364938422
NM_012120.3(CD2AP):c.*2118T>A rs886061546
NM_012120.3(CD2AP):c.*2321C>G rs956393348
NM_012120.3(CD2AP):c.*2369G>A rs886061549
NM_012120.3(CD2AP):c.*2394A>G rs1014136188
NM_012120.3(CD2AP):c.*2449C>A rs878891637
NM_012120.3(CD2AP):c.*326T>A rs1769851188
NM_012120.3(CD2AP):c.*549T>C rs1769867725
NM_012120.3(CD2AP):c.*652A>G rs886061537
NM_012120.3(CD2AP):c.*707G>A rs886061538
NM_012120.3(CD2AP):c.-191G>A rs886061514
NM_012120.3(CD2AP):c.-329C>T rs886061511
NM_012120.3(CD2AP):c.-441C>A rs111766401
NM_012120.3(CD2AP):c.-441C>G rs111766401
NM_012120.3(CD2AP):c.-69C>A rs946137629
NM_012120.3(CD2AP):c.1045+1G>A rs1393955970
NM_012120.3(CD2AP):c.1148C>A (p.Ala383Glu) rs149300022
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896
NM_012120.3(CD2AP):c.1275-11dup rs569215676
NM_012120.3(CD2AP):c.1379del (p.Asp460fs) rs1562050952
NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) rs1582617802
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.1594C>T (p.Pro532Ser) rs1332219962
NM_012120.3(CD2AP):c.1633-6T>A rs886061522
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) rs773479372
NM_012120.3(CD2AP):c.180_181del (p.Glu60fs) rs1766948408
NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn) rs886061519
NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg) rs886061520
NM_012120.3(CD2AP):c.541+14T>A rs766983546
NM_012120.3(CD2AP):c.542-11T>C rs1768231418
NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro) rs1582577489
NM_012120.3(CD2AP):c.721C>A (p.Pro241Thr)
NM_012120.3(CD2AP):c.730-1_730delinsCT rs1554181304

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.