ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.377A>G (p.Asp126Gly) rs1354593943
NM_000551.3(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.3(VHL):c.408T>G (p.Phe136Leu) rs878854125
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.3(VHL):c.427G>C (p.Asp143His) rs372757722
NM_000551.3(VHL):c.451A>C (p.Ile151Leu) rs876659313
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.578A>G (p.Asn193Ser) rs879254225
NM_000551.3(VHL):c.596A>C (p.Glu199Ala) rs760690217
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.608A>G (p.Gln203Arg) rs1270568049
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.634G>T (p.Gly212Ter) rs1553620389
NM_000551.4(VHL):c.378T>G (p.Asp126Glu) rs764053615
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.