ClinVar Miner

List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala) rs372380407 0.00015
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253 0.00011
NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser) rs1024259166 0.00006
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983 0.00006
NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile) rs774458027 0.00004
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) rs770685607 0.00003
NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro) rs757942327 0.00003
NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr) rs753511719 0.00002
NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro) rs767498508 0.00002
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408 0.00001
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387 0.00001
NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys) rs765579855 0.00001
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887 0.00001
NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly) rs1249218517 0.00001
NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu) rs756392214 0.00001
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) rs746966446 0.00001
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) rs1465193578 0.00001
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) rs1085307691 0.00001
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) rs1332907515 0.00001
NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr) rs1855240969 0.00001
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) rs767082700 0.00001
NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala) rs1188034363 0.00001
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) rs771427950 0.00001
NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp) rs560639654 0.00001
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160 0.00001
NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr) rs1855225079 0.00001
NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu) rs774850290 0.00001
NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys) rs762690431 0.00001
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala) rs201440245 0.00001
NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys) rs1366256663 0.00001
NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly) rs1449152242 0.00001
NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp) rs1478860566 0.00001
NM_006876.3(B4GAT1):c.952G>A (p.Val318Met) rs1008736415 0.00001
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) rs368961025 0.00001
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg) rs775935595 0.00001
NC_000011.9:g.(?_66099747)_(66291373_?)dup
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys) rs1441553616
NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg) rs2134973952
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) rs878853035
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met) rs898632587
NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu) rs1316420567
NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg) rs1443678248
NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu) rs2495381893
NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys) rs562459083
NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His) rs780415381
NM_006876.3(B4GAT1):c.148C>T (p.Pro50Ser)
NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser) rs1272704626
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser) rs1000733603
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) rs1555016653
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) rs1555016650
NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met) rs868408971
NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn) rs1855236030
NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr) rs749538656
NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val) rs1161795181
NM_006876.3(B4GAT1):c.409G>A (p.Val137Met) rs376914969
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val) rs1855229583
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) rs761732914
NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile) rs1855227445
NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys) rs754466638
NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser) rs1213307833
NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser) rs2495386188
NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro) rs2495386012
NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn) rs1288080924
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) rs774850290
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg) rs768060657
NM_006876.3(B4GAT1):c.748dup (p.Trp250fs) rs1379626331
NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr) rs766537591
NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu) rs1319732212
NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly) rs2134974665
NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys) rs1455459346
NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met) rs775465030
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His) rs1855220609
NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys) rs1187161687
NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp) rs2495384577
NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro) rs2495387981
NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu) rs2134974418
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420

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