ClinVar Miner

List of variants in gene BCKDHB reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val) rs574122134 0.00004
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val) rs769876670 0.00003
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly) rs371131253 0.00002
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) rs867033248 0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) rs763434607 0.00002
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) rs761138547 0.00001
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val) rs398124563 0.00001
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn) rs970365846 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val) rs374253889 0.00001
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala) rs780722473 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) rs398124585 0.00001
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) rs761827220 0.00001
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) rs762438504 0.00001
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser) rs370331553 0.00001
NC_000006.11:g.(?_80877375)_(80881127_?)dup
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
NM_183050.4(BCKDHB):c.1038+5A>T
NM_183050.4(BCKDHB):c.1039-10C>G rs760262704
NM_183050.4(BCKDHB):c.1039-10_1039-9del
NM_183050.4(BCKDHB):c.1039-9dup rs2128020517
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys) rs989873156
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr) rs2128020569
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu) rs1770038350
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile) rs774255890
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val) rs1554216344
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu) rs1554216354
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly) rs1185514016
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly) rs2127699100
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His) rs773031829
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
NM_183050.4(BCKDHB):c.196+5G>A rs398124568
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg) rs2127726102
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
NM_183050.4(BCKDHB):c.274+5C>T rs1770414545
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser) rs1770499193
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg) rs770263755
NM_183050.4(BCKDHB):c.343+2dup
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu) rs1772648897
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His) rs2127773506
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp) rs2127773518
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg) rs2127773530
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu) rs537680296
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro) rs1562104694
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro) rs1769081318
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala) rs2127823416
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro) rs1582342243
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly) rs1774369297
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala) rs775427993
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro) rs1210713694
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup) rs1554180793
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe) rs1562193767
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly) rs769446376
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)

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.