ClinVar Miner

List of variants in gene POMT1 reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001077365.2(POMT1):c.103dup (p.Thr35fs) rs2539022148
NM_001077365.2(POMT1):c.1175+1G>T
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs) rs749018170
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs) rs766240294
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs) rs1949455055
NM_001077365.2(POMT1):c.1550del (p.Asn517fs) rs2539397796
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1584+1G>T
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter) rs1945764912
NM_001077365.2(POMT1):c.1654_1655dup (p.Leu553fs)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.2101del (p.Asp701fs)
NM_001077365.2(POMT1):c.229+1G>A
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.389del (p.His130fs) rs1564336750
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.699+67dup rs1588377489
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs) rs2539148178
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572

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