ClinVar Miner

List of variants studied for Toriello-Lacassie-Droste syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NC_000019.10:g.56040975T>C rs202181446 0.00037
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00013
NC_000019.10:g.56032687C>T rs200446614 0.00008
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00002
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.487A>G (p.Ile163Val) rs1470495974 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00001
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.168C>T (p.Leu56=) rs958790148
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_004985.5(KRAS):c.331A>G (p.Met111Val) rs1951384733
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys) rs2141506126
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004985.5(KRAS):c.450+5G>A rs2548918908
NM_004985.5(KRAS):c.451-6T>C
NM_004985.5(KRAS):c.534_536del (p.Lys180del) rs1373386042
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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.