ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 by Invitae

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Total variants: 44
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HGVS dbSNP
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys)
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) rs770685607
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) rs878853035
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met)
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) rs771065781
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) rs531686913
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser)
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) rs751180898
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.196G>A (p.Ala66Thr) rs765114036
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) rs746966446
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) rs1085307691
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) rs1332907515
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) rs201892419
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) rs767082700
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.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=) rs750370418
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) rs761732914
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) rs771427950
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) rs774850290
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His)
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala)
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) rs200574075
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) rs368961025
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)

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