ClinVar Miner

List of variants reported as likely pathogenic for chronic kidney disease

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_000092.5(COL4A4):c.2164+2T>G rs1976595133
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) rs1362306576
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_177550.5(SLC13A5):c.231+2T>G rs730882222

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