ClinVar Miner

List of variants reported as likely pathogenic by Chan Lab,Boston Children's Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) rs727505367
NM_001059.3(TACR3):c.511G>C (p.Ala171Pro) rs201195175
NM_001059.3(TACR3):c.623G>A (p.Trp208Ter) rs727505375
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) rs138952094
NM_013251.4(TAC3):c.238C>A (p.Arg80Ser) rs727505372
NM_013251.4(TAC3):c.248A>G (p.His83Arg) rs143862988
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377
NM_017563.5(IL17RD):c.600G>A (p.Trp200Ter) rs727505366
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu) rs376239580
NT_029419.13:g.18595G>T rs727505368

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.