ClinVar Miner

List of variants in gene POMT1 reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 16
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HGVS dbSNP
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.2004-1G>C rs745738628
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982
NM_001077365.2(POMT1):c.699+67G>A rs776061161
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689

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