ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, spondylodysplastic type, 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00100
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00058
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=) rs562616873 0.00036
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=) rs370430307 0.00012
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=) rs532162467 0.00012
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=) rs764859016 0.00009
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=) rs759484127 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=) rs766907387 0.00005
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=) rs928368471 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=) rs1204837935 0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=) rs963500907 0.00003
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295 0.00003
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=) rs933332160 0.00002
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=) rs769070902 0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=) rs1200418637 0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=) rs1638533555 0.00002
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=) rs1192778440 0.00001
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=) rs397514722 0.00001
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=) rs1638537998 0.00001
NM_080605.4(B3GALT6):c.189G>A (p.Val63=) rs1471843111 0.00001
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=) rs1638539285 0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=) rs1557526065 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 0.00001
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=) rs775184604 0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=) rs767598361 0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=) rs750669776 0.00001
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=) rs1402832925 0.00001
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=) rs1489962435 0.00001
NM_080605.4(B3GALT6):c.456G>C (p.Val152=) rs1638553083 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=) rs1333788078 0.00001
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=) rs761042305 0.00001
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=) rs781333823 0.00001
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=) rs1481960157 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=) rs1331756827 0.00001
NM_080605.4(B3GALT6):c.576C>T (p.Val192=) rs762952410 0.00001
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=) rs1638559455 0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=) rs1300221753 0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=) rs764901184 0.00001
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=) rs775975088 0.00001
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=) rs766274999 0.00001
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=) rs764915085 0.00001
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=) rs1031675737 0.00001
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896 0.00001
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=) rs540015952 0.00001
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=) rs1239726506 0.00001
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=) rs1441211766 0.00001
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=) rs914725170 0.00001
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=) rs1285145259 0.00001
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=) rs1022883202
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=) rs1638536808
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=) rs1234350290
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=) rs1179179554
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=) rs933332160
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=) rs1410126668
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=) rs1410126668
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=) rs764859016
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=) rs1638547925
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=) rs1224612114
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=) rs2521965638
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=) rs750669776
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=) rs1570498417
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=) rs142133113
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=) rs1188654312
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=) rs1305970798
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=) rs1570497749
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=) rs1638555085
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=) rs1638557420
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=) rs776909065
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=) rs1159941155
NM_080605.4(B3GALT6):c.576C>G (p.Val192=) rs762952410
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=) rs562616873
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=) rs2521969822
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=) rs1638560199
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=) rs1351950308
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=) rs774559255
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=) rs776467362
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=) rs1298748896
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=) rs2521974152
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=) rs574367204
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=) rs574367204

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.