ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic for not provided

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Total variants: 13
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NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val) rs398124243
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1552del (p.Leu518fs) rs1453641005
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.2004-1_2005del rs1057520142
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) rs750453909
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661

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