ClinVar Miner

List of variants reported as likely benign for Von Hippel-Lindau syndrome by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-77C>T rs3087462 0.02828
NM_000551.4(VHL):c.*823G>A rs7629500 0.02732
NM_000551.4(VHL):c.*1960G>A rs9822696 0.00515
NM_000551.4(VHL):c.*1465C>A rs183067022 0.00497
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.*3492_*3493dup rs112494627
NM_000551.4(VHL):c.*523del rs546118793
NM_000551.4(VHL):c.*923GTTTT[5] rs544983652
NM_000551.4(VHL):c.341-5G>A rs372340900

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