ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NC_000001.11:g.(?_46190463)_(46190794_?)del
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs) rs2148192725
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter) rs2148189653
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) rs1657864516
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1285-2A>T rs386834012
NM_017739.4(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs) rs2148185606
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
NM_017739.4(POMGNT1):c.1539+1G>T rs138642840
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter) rs746196856
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter) rs376973640
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter) rs1364587778
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1895+1G>C rs386834024
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.426del (p.His142fs)
NM_017739.4(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer) rs2148205473
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter) rs908815575
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817

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.