ClinVar Miner

List of variants reported as likely benign for Focal segmental glomerulosclerosis

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
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_012120.3(CD2AP):c.1898A>G (p.Lys633Arg) rs116754410 0.00844
NM_012120.2(CD2AP):c.*3047G>A rs116607853 0.00826
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_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
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_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
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_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_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_004621.6(TRPC6):c.837C>T (p.Gly279=) rs147530677 0.00042
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_004924.6(ACTN4):c.2010+9C>T rs202218981 0.00021
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_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.115G>A (p.Glu39Lys) rs375670819 0.00006
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_022489.4(INF2):c.3435C>T (p.Ala1145=) rs780026536 0.00003
NM_001174147.2(LMX1B):c.1153G>A (p.Val385Met) rs750526845 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004621.6(TRPC6):c.*33del rs753955901
NM_004621.6(TRPC6):c.*509_*512dup rs557577176
NM_004621.6(TRPC6):c.1196G>A (p.Arg399Gln)
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)
NM_012120.3(CD2AP):c.*1430dup rs145649247
NM_012120.3(CD2AP):c.-167_-165del rs533900030
NM_012120.3(CD2AP):c.-55_-54insAGG rs560930115
NM_012120.3(CD2AP):c.297A>G (p.Pro99=)
NM_022489.4(INF2):c.1377G>C (p.Pro459=) rs776870726

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