ClinVar Miner

List of variants studied for nonpapillary renal cell carcinoma by OMIM

Included ClinVar conditions (7):

Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma

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Total variants: 4

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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_000545.8(HNF1A):c.872dup (p.Gly292fs)	rs587776825
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)	rs864321679

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