ClinVar Miner

List of variants reported for Occipital pachygyria and polymicrogyria by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006059.4(LAMC3):c.2096G>A (p.Gly699Asp) rs61737720 0.00943
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_006059.4(LAMC3):c.1940-9G>A rs183574786 0.00170
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_006059.4(LAMC3):c.558C>T (p.Arg186=) rs2275135 0.00105
NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala) rs138481447 0.00068
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00031
NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys) rs146609763 0.00016
NM_006059.4(LAMC3):c.1217C>T (p.Thr406Met) rs374994541 0.00014
NM_006059.4(LAMC3):c.3487G>A (p.Ala1163Thr) rs374675268 0.00011
NM_006059.4(LAMC3):c.4093G>A (p.Val1365Ile) rs148481163 0.00008
NM_006059.4(LAMC3):c.1103A>G (p.Gln368Arg) rs200609384 0.00007
NM_006059.4(LAMC3):c.3486C>T (p.Leu1162=) rs368499727 0.00006
NM_006059.4(LAMC3):c.1241G>A (p.Arg414His) rs372564761 0.00005
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg) rs571785750 0.00003
NM_006059.4(LAMC3):c.1524C>T (p.Ala508=) rs753711099 0.00002
NM_006059.4(LAMC3):c.1907G>A (p.Arg636His) rs753991024 0.00002
NM_006059.4(LAMC3):c.3499A>G (p.Arg1167Gly) rs561097705 0.00001
NM_006059.4(LAMC3):c.809+2_809+8del rs775851709
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738

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