ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg) rs912556508 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NC_000009.11:g.(?_134389752)_(134390863_?)del
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+2dup
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn) rs1564395473
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.230-2A>G
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.583del (p.Val195fs)
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
NM_001077365.2(POMT1):c.699+14_699+17dup
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077365.2(POMT1):c.[2101dup];[512T>G]

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.