ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic

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Total variants: 32
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HGVS dbSNP
NM_001077365.2(POMT1):c.1176-2A>G
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.1272+2T>C rs1564365317
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.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1699-1G>A
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
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.2004-1_2005del rs1057520142
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) rs750453909
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn)
NM_001077365.2(POMT1):c.229+2T>C
NM_001077365.2(POMT1):c.427+1G>A
NM_001077365.2(POMT1):c.427+1_427+2insA
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400
NM_001077365.2(POMT1):c.699+67G>A rs776061161
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.987-2A>C rs1453773610

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