ClinVar Miner

List of variants studied for chronic kidney disease

Included ClinVar conditions (13):
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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp) rs2296545 0.45746
NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe) rs55752621 0.00852
NM_002113.3(CFHR1):c.790+1G>A rs140799744 0.00774
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys) rs1063445 0.00691
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_212482.4(FN1):c.1070G>A (p.Gly357Glu) rs140926439 0.00270
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_212482.4(FN1):c.1775G>A (p.Arg592His) rs147831535 0.00218
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_015148.4(PASK):c.3533+1G>A rs140030739 0.00141
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781 0.00133
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_004309.6(ARHGDIA):c.*243G>A rs189865523 0.00085
NM_015375.3(DSTYK):c.2776G>T (p.Asp926Tyr) rs148542303 0.00071
NM_212482.4(FN1):c.5954C>A (p.Pro1985His) rs148388245 0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955 0.00036
NM_001080508.3(TBX18):c.574G>T (p.Val192Leu) rs201041948 0.00035
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) rs201056172 0.00019
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp) rs756003995 0.00010
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) rs34043251 0.00010
NM_001379286.1(ZNF423):c.2275C>T (p.Arg759Cys) rs757246232 0.00004
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys) rs758221597 0.00003
NM_002113.3(CFHR1):c.911A>G (p.Tyr304Cys) rs1376009483 0.00002
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro) rs778366340 0.00001
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.625G>A (p.Gly209Ser) rs1439470829
NM_000092.5(COL4A4):c.2164+2T>G rs1976595133
NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln) rs1057518854
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) rs1362306576
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) rs1057518797
NM_001002295.2(GATA3):c.1051-1G>C rs112417755
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001966.4(EHHADH):c.594_595del (p.Cys199fs) rs781090244
NM_002113.3(CFHR1):c.727C>G (p.Leu243Val) rs1655514497
NM_003396.3(WNT9B):c.11dup (p.Pro5fs) rs1291189006
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg) rs753748759
NM_014553.3(TFCP2L1):c.689del (p.Asp230fs) rs2104690970
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_018685.5(ANLN):c.575C>G (p.Ser192Trp) rs139482132
NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6]) rs564144826
NM_024426.6(WT1):c.576G>T (p.Gln192His) rs1853438283
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val) rs1556446493
NM_177550.5(SLC13A5):c.231+2T>G rs730882222

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