ClinVar Miner

List of variants studied for lymphatic system disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_006767.4(LZTR1):c.510-2A>G rs1458682620 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_001166345.3(MDFIC):c.391dup (p.Met131fs) rs562142736
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs) rs1584651110
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) rs1597402936
NM_006767.4(LZTR1):c.401-1G>A
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) rs1451816005

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.