ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) rs3765524 0.31528
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) rs2274223 0.31202
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) rs17417407 0.15541
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213 0.10689
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) rs36111323 0.08144
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_016341.4(PLCE1):c.*166G>C rs11187870 0.06391
NM_014625.4(NPHS2):c.-52C>G rs78541594 0.06302
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) rs61743044 0.04384
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02979
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_004924.6(ACTN4):c.246C>T (p.Leu82=) rs77307137 0.02544
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380 0.02529
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_001174147.2(LMX1B):c.930G>A (p.Thr310=) rs112171815 0.01716
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005 0.01396
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841 0.01262
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859 0.01259
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782 0.01143
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_012120.3(CD2AP):c.696C>T (p.Ser232=) rs140627775 0.00876
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) rs140381330 0.00875
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258 0.00858
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_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916 0.00775
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_001358921.2(COQ2):c.189G>T (p.Val63=) rs368507578 0.00719
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=) rs145474119 0.00666
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=) rs148478875 0.00638
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_004646.4(NPHS1):c.2223C>T (p.Thr741=) rs2073901 0.00423
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) rs34761059 0.00420
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) rs35240811 0.00405
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_004646.4(NPHS1):c.1926A>G (p.Val642=) rs114728208 0.00397
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_004646.4(NPHS1):c.840+6G>A rs369975773 0.00388
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_012120.3(CD2AP):c.1120A>G (p.Thr374Ala) rs138727736 0.00324
NM_016341.4(PLCE1):c.227C>T (p.Ala76Val) rs61749238 0.00315
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_016341.4(PLCE1):c.2999G>A (p.Ser1000Asn) rs61751498 0.00200
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239 0.00101
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_004646.4(NPHS1):c.151C>T (p.Leu51=) rs114385015 0.00057
NM_004646.4(NPHS1):c.803G>A (p.Arg268Gln) rs115308424 0.00052
NM_004621.6(TRPC6):c.837C>T (p.Gly279=) rs147530677 0.00042
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.3110-5C>T rs190769116 0.00041
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110 0.00029
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_020381.4(PDSS2):c.1146G>A (p.Ser382=) rs192206443 0.00022
NM_004924.6(ACTN4):c.2010+9C>T rs202218981 0.00021
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) rs372396071 0.00011
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559 0.00011
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_002292.4(LAMB2):c.1575C>T (p.Asp525=) rs138230622 0.00008
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_014625.4(NPHS2):c.372C>T (p.Cys124=) rs139290621 0.00006
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_022489.4(INF2):c.3435C>T (p.Ala1145=) rs780026536 0.00003
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) rs750526845 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_002292.4(LAMB2):c.1156T>C (p.Cys386Arg)
NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)
NM_002292.4(LAMB2):c.815A>G (p.Tyr272Cys)
NM_002909.5(REG1A):c.80C>G (p.Thr27Arg)
NM_004621.6(TRPC6):c.1156C>T (p.Gln386Ter)
NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln)
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)
NM_004621.6(TRPC6):c.2408A>G (p.Lys803Arg)
NM_004621.6(TRPC6):c.2668G>C (p.Asp890His)
NM_004621.6(TRPC6):c.376G>T (p.Val126Phe)
NM_004646.4(NPHS1):c.1734G>A (p.Leu578=) rs1973129633
NM_004646.4(NPHS1):c.17C>G (p.Thr6Arg)
NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)
NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)
NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.59-9T>G
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.4(NPHS1):c.888G>T (p.Ala296=)
NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)
NM_004924.6(ACTN4):c.1443-7C>T
NM_004924.6(ACTN4):c.2315C>T (p.Ala772Val)
NM_004924.6(ACTN4):c.2338-3C>T
NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu) rs113969422
NM_004924.6(ACTN4):c.459C>A (p.Phe153Leu)
NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_012120.3(CD2AP):c.1471G>A (p.Ala491Thr)
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012120.3(CD2AP):c.297A>G (p.Pro99=)
NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)
NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.353C>G (p.Ala118Gly)
NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.947C>G (p.Pro316Arg)
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016341.4(PLCE1):c.-10T>G
NM_016341.4(PLCE1):c.3815-8T>C
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) rs2274224
NM_020381.4(PDSS2):c.31C>T (p.Pro11Ser)
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1377G>C (p.Pro459=) rs776870726
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.607G>A (p.Ala203Thr) rs1213058223
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) rs1564972874

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.