ClinVar Miner

List of variants studied for kidney cancer by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004484.4(GPC3):c.733C>A (p.His245Asn) rs199778216 0.00002
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro) rs2071694723

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