ClinVar Miner

List of variants studied for chronic kidney disease

Included ClinVar conditions (1):
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Total variants: 44
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HGVS dbSNP
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.625G>A (p.Gly209Ser)
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000092.5(COL4A4):c.2164+2T>G
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000186.4(CFH):c.2517C>A rs1362306576
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001080508.3(TBX18):c.574G>T (p.Val192Leu)
NM_001271620.2(ZNF423):c.2071C>T (p.Arg691Cys) rs757246232
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001966.4(EHHADH):c.2108C>T (p.Ser703Phe) rs55752621
NM_001966.4(EHHADH):c.594_595del (p.Cys199fs)
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781
NM_002026.3(FN1):c.1070G>A (p.Gly357Glu) rs140926439
NM_002026.3(FN1):c.1775G>A (p.Arg592His) rs147831535
NM_002026.3(FN1):c.4213C>T (p.Arg1405Trp) rs139078629
NM_002113.3(CFHR1):c.727C>G
NM_002113.3(CFHR1):c.790+1G>A
NM_002113.3(CFHR1):c.911A>G
NM_003361.4(UMOD):c.1243C>T (p.Arg415Cys)
NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln) rs41282065
NM_004309.6(ARHGDIA):c.*243G>A
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp)
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_015148.4(PASK):c.3533+1G>A rs140030739
NM_015375.3(DSTYK):c.2776G>T (p.Asp926Tyr)
NM_018685.5(ANLN):c.575C>G (p.Ser192Trp)
NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6])
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_024426.6(WT1):c.576G>T (p.Gln192His)
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_030787.3(CFHR5):c.622T>C (p.Cys208Arg) rs41299613
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_144696.6(AXDND1):c.3032-1891_3032-1890del rs749740335
NM_144966.5(FREM1):c.1640C>G (p.Ala547Gly) rs201056172
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys) rs1063445
NM_212482.3(FN1):c.5954C>A (p.Pro1985His) rs148388245
NM_212482.4(FN1):c.3130G>A (p.Val1044Met)
NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro)

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