ClinVar Miner

List of variants reported as pathogenic for clear cell renal carcinoma

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) rs104893751 0.00233
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs) rs864321679
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069

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