ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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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.932G>A (p.Arg311Gln) rs193919336 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.652+1G>T rs386834035 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.1413+1G>C rs587777821
NM_017739.4(POMGNT1):c.1413+1G>T rs587777821
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter) rs267606961
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.1478C>G (p.Pro493Arg) rs28942068
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.1649G>A (p.Ser550Asn) rs193919335
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.1719del (p.His573fs) rs386834017
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.1832del (p.Leu611fs) rs587777822
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.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
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

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