ClinVar Miner

List of variants in gene NKIRAS1, RPL15 studied for Diamond-Blackfan anemia 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002948.5(RPL15):c.309+13G>C rs35054246 0.03804
NC_000003.12:g.23921643C>T rs76953660 0.02438
NM_002948.5(RPL15):c.243C>T (p.Tyr81=) rs35608037 0.00929
NM_002948.5(RPL15):c.75C>G (p.Val25=) rs35629664 0.00525
NM_002948.5(RPL15):c.563G>A (p.Arg188His) rs376990079 0.00011
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg) rs370700905 0.00005
NM_002948.5(RPL15):c.172+5G>A rs369956511 0.00004
NM_002948.5(RPL15):c.536A>G (p.Lys179Arg) rs774572575 0.00002
NM_001253384.2(RPL15):c.309+91_361-539del
NM_002948.5(RPL15):c.130del (p.Arg44fs) rs2471215139
NM_002948.5(RPL15):c.173-18G>A rs36038704
NM_002948.5(RPL15):c.231G>A (p.Lys77=)
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter) rs2471221205
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro) rs2471214224
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) rs1704930969
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr) rs370700905
NM_002948.5(RPL15):c.553G>A (p.Gly185Ser)
NM_002948.5(RPL15):c.584G>A (p.Arg195His)
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter) rs2471214687

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.