ClinVar Miner

List of variants studied for nonpapillary renal cell carcinoma by Baylor Genetics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)	rs1002380887	0.00001
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)	rs193922606

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