ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-4A>T rs1559428033
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.387G>T (p.Leu129=) rs778846471
NM_000551.3(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.3(VHL):c.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.426T>C (p.Val142=) rs143594610
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-10G>A rs552930903
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.627A>G (p.Gln209=) rs758494789
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.4(VHL):c.340+578C>T
NM_000551.4(VHL):c.340+621T>C
NM_000551.4(VHL):c.340+686_340+687del
NM_000551.4(VHL):c.341-8C>T
NM_000551.4(VHL):c.354C>T (p.Leu118=)
NM_000551.4(VHL):c.357C>T (p.Phe119=)
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.420C>T (p.Leu140=) rs369465430
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.447C>T (p.Ala149=)
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.498C>T (p.Val166=)
NM_000551.4(VHL):c.501G>C (p.Arg167=)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.588A>G (p.Lys196=)
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.594G>A (p.Leu198=)
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755
NM_001354723.2(VHL):c.*133T>C rs1060503558
NM_001354723.2(VHL):c.*61A>C rs878854126
NM_198156.3(VHL):c.341-3203G>C rs1553619969
NM_198156.3(VHL):c.341-3229C>T rs369018004

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.