ClinVar Miner

List of variants in gene LAMA4 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.849= (p.Asp283=) rs9387061 0.99999
NM_001105206.3(LAMA4):c.3283-15C>T rs2032568 0.77184
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser) rs2032567 0.77036
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His) rs1050348 0.66129
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=) rs1050353 0.29327
NM_001105206.3(LAMA4):c.5326+6T>G rs3734289 0.24973
NM_001105206.3(LAMA4):c.5326+15A>C rs3734290 0.24942
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) rs147822567 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) rs137948709 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.4287+16G>A rs140156070 0.00006
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala) rs782667094 0.00006
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) rs782293373 0.00003
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001105206.3(LAMA4):c.2057-2A>T rs1780342227 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter) rs2114895179
NM_001105206.3(LAMA4):c.200G>A (p.Cys67Tyr) rs1239642838
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.3036T>C (p.Asn1012=) rs797037404
NM_001105206.3(LAMA4):c.848= (p.Asp283=) rs879974322

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