ClinVar Miner

List of variants reported as benign for maple syrup urine disease by Natera, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val) rs534975518 0.00001
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-4del rs201117345
NM_183050.4(BCKDHB):c.197-12dup rs201800966
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser) rs571728255

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.