ClinVar Miner

List of variants studied for Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro) rs150167906 0.00082
NM_005932.4(MIPEP):c.1728+5G>T rs557275294 0.00013
NM_005932.4(MIPEP):c.2092G>A (p.Val698Ile) rs567713935 0.00004

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