ClinVar Miner

List of variants studied for Salla disease by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1260-2A>C
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.701-1G>A
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.95-1G>A
NM_012434.5(SLC17A5):c.979-1G>T
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716

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.