ClinVar Miner

List of variants reported for Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome by Undiagnosed Diseases Network, NIH

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) rs768628283 0.00001
NM_005932.4(MIPEP):c.787-51_993-181del
Single allele

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