ClinVar Miner

List of variants reported as benign for qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan by Illumina Laboratory Services, Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.*5260G>T rs2010861 0.11975
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-45G>T rs77013649

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