ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy

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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
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.605+1G>T rs766648827 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
NM_001077365.2(POMT1):c.1091del (p.Leu364fs) rs1947522752
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1204dup (p.His402fs) rs2131749139
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) rs1191391104
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2131588122
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
NM_001077365.2(POMT1):c.1671del (p.Ile557fs) rs1949626483
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) rs1945827957
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs) rs1222795311
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
NM_001077365.2(POMT1):c.427+1G>A rs760071332
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
NM_001077365.2(POMT1):c.58dup (p.Val20fs) rs2131554631
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.72del (p.Met25fs) rs2131554917
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs) rs2131672013
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689

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