ClinVar Miner

List of variants reported as uncertain significance for Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) rs150308123 0.00111
NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr) rs367730807 0.00074
NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr) rs202147615 0.00007
NM_005932.4(MIPEP):c.1090G>A (p.Val364Met) rs780905427 0.00004
NM_005932.4(MIPEP):c.1526G>A (p.Arg509His) rs369521380 0.00004
NM_005932.4(MIPEP):c.1354A>C (p.Ile452Leu) rs756060769 0.00001
NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu) rs1870346695
NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val) rs1870163153

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