ClinVar Miner

List of variants in gene POMT1 reported as benign for Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_001077365.2(POMT1):c.*226T>C rs3824395
NM_001077365.2(POMT1):c.*278T>C rs10793885
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*348C>T rs7857419
NM_001077365.2(POMT1):c.*41T>C rs3739495
NM_001077365.2(POMT1):c.*421G>A rs10257
NM_001077365.2(POMT1):c.*453T>C rs11005
NM_001077365.2(POMT1):c.*529G>A rs116005066
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.2003+13C>T rs4740165
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289

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