ClinVar Miner

List of variants reported as likely pathogenic by Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1501G>A (p.Ala501Thr)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.2287del (p.Glu763fs)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.478T>A (p.Cys160Ser)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.670_675dup (p.Asp224_Lys225dup)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.850_852del (p.Cys284del)
NM_000527.5(LDLR):c.980A>C (p.His327Pro)

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.